LOCUS       NM_001384474            7208 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens lipoxygenase homology PLAT domains 1 (LOXHD1),
            transcript variant 6, mRNA.
ACCESSION   NM_001384474
VERSION     NM_001384474.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7208)
  AUTHORS   Deng,Q., Natesan,R., Cidre-Aranaz,F., Arif,S., Liu,Y., Rasool,R.U.,
            Wang,P., Mitchell-Velasquez,E., Das,C.K., Vinca,E., Cramer,Z.,
            Grohar,P.J., Chou,M., Kumar-Sinha,C., Weber,K.,
            Eisinger-Mathason,T.S.K., Grillet,N., Grunewald,T.G.P. and
            Asangani,I.A.
  TITLE     Oncofusion-driven de novo enhancer assembly promotes malignancy in
            Ewing sarcoma via aberrant expression of the stereociliary protein
            LOXHD1
  JOURNAL   Cell Rep 39 (11), 110971 (2022)
   PUBMED   35705030
  REMARK    GeneRIF: Oncofusion-driven de novo enhancer assembly promotes
            malignancy in Ewing sarcoma via aberrant expression of the
            stereociliary protein LOXHD1.
REFERENCE   2  (bases 1 to 7208)
  AUTHORS   Kim,B.J., Jeon,H.W., Jeon,W., Han,J.H., Oh,J., Yi,N., Kim,M.Y.,
            Kim,M., Kim,J.N., Kim,B.H., Hyon,J.Y., Kim,D., Koo,J.W., Oh,D.Y.
            and Choi,B.Y.
  TITLE     Rising of LOXHD1 as a signature causative gene of down-sloping
            hearing loss in people in their teens and 20s
  JOURNAL   J Med Genet 59 (5), 470-480 (2022)
   PUBMED   33753533
  REMARK    GeneRIF: Rising of LOXHD1 as a signature causative gene of
            down-sloping hearing loss in people in their teens and 20s.
REFERENCE   3  (bases 1 to 7208)
  AUTHORS   Yu,S., Chen,W.X., Zhang,Y.F., Chen,C., Ni,Y., Duan,B., Wang,H. and
            Xu,Z.M.
  TITLE     Recessive LOXHD1 variants cause a prelingual down-sloping hearing
            loss: genotype-phenotype correlation and three additional children
            with novel variants
  JOURNAL   Int J Pediatr Otorhinolaryngol 145, 110715 (2021)
   PUBMED   33892339
  REMARK    GeneRIF: Recessive LOXHD1 variants cause a prelingual down-sloping
            hearing loss: genotype-phenotype correlation and three additional
            children with novel variants.
            Review article
REFERENCE   4  (bases 1 to 7208)
  AUTHORS   Bai,X., Zhang,C., Zhang,F., Xiao,Y., Jin,Y., Wang,H. and Xu,L.
  TITLE     Five Novel Mutations in LOXHD1 Gene Were Identified to Cause
            Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese
            Families
  JOURNAL   Biomed Res Int 2020, 1685974 (2020)
   PUBMED   32149082
  REMARK    GeneRIF: Five Novel Mutations in LOXHD1 Gene Were Identified to
            Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese
            Families.
            Erratum:[Biomed Res Int. 2020 Sep 28;2020:9519415. doi:
            10.1155/2020/9519415.. PMID: 33062705]
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 7208)
  AUTHORS   Zhang,C., Hao,S., Liu,Y., Zhou,B., Liu,F., Zheng,L., Ma,P., Liu,Q.,
            Lin,X., Yan,Y. and Zhang,Q.
  TITLE     A novel LOXHD1 variant in a Chinese couple with hearing loss
  JOURNAL   J Int Med Res 47 (12), 6082-6090 (2019)
   PUBMED   31709873
  REMARK    GeneRIF: The LOXHD1 variant c.1828G>A present in the wife had not
            previously been reported in individuals with congenital hearing
            loss.
REFERENCE   6  (bases 1 to 7208)
  AUTHORS   Mori,K., Moteki,H., Kobayashi,Y., Azaiez,H., Booth,K.T.,
            Nishio,S.Y., Sato,H., Smith,R.J. and Usami,S.
  TITLE     Mutations in LOXHD1 gene cause various types and severities of
            hearing loss
  JOURNAL   Ann Otol Rhinol Laryngol 124 Suppl 1 (1 0), 135S-141S (2015)
   PUBMED   25792669
  REMARK    GeneRIF: Mutations in LOXHD1 are identified in a Japanese
            population with sensorineural hearing loss.
REFERENCE   7  (bases 1 to 7208)
  AUTHORS   Riazuddin,S.A., Parker,D.S., McGlumphy,E.J., Oh,E.C., Iliff,B.W.,
            Schmedt,T., Jurkunas,U., Schleif,R., Katsanis,N. and Gottsch,J.D.
  TITLE     Mutations in LOXHD1, a recessive-deafness locus, cause dominant
            late-onset Fuchs corneal dystrophy
  JOURNAL   Am J Hum Genet 90 (3), 533-539 (2012)
   PUBMED   22341973
  REMARK    GeneRIF: Authors identified a missense change in LOXHD1. Data
            implicate rare alleles in LOXHD1 in the pathogenesis of FCD and
            highlight how different mutations in the same locus can potentially
            produce diverse phenotypes.
REFERENCE   8  (bases 1 to 7208)
  AUTHORS   Edvardson,S., Jalas,C., Shaag,A., Zenvirt,S., Landau,C., Lerer,I.
            and Elpeleg,O.
  TITLE     A deleterious mutation in the LOXHD1 gene causes autosomal
            recessive hearing loss in Ashkenazi Jews
  JOURNAL   Am J Med Genet A 155A (5), 1170-1172 (2011)
   PUBMED   21465660
  REMARK    GeneRIF: This is the second reported mutation in the LOXHD1 gene,
            and its homozygous presence in two of 39 Ashkenazi Jewish families
            with congenital ARNSHL suggest that it could account for some 5% of
            the familial cases in this community
            GeneRIF: A founder mutation R1572X in the LOXHD1 causes autosomal
            recessive hearing loss in Ashkenazi Jews
REFERENCE   9  (bases 1 to 7208)
  AUTHORS   Grillet,N., Schwander,M., Hildebrand,M.S., Sczaniecka,A.,
            Kolatkar,A., Velasco,J., Webster,J.A., Kahrizi,K., Najmabadi,H.,
            Kimberling,W.J., Stephan,D., Bahlo,M., Wiltshire,T.,
            Tarantino,L.M., Kuhn,P., Smith,R.J. and Muller,U.
  TITLE     Mutations in LOXHD1, an evolutionarily conserved stereociliary
            protein, disrupt hair cell function in mice and cause progressive
            hearing loss in humans
  JOURNAL   Am J Hum Genet 85 (3), 328-337 (2009)
   PUBMED   19732867
  REMARK    GeneRIF: A mutation in LOXHD1, which causes DFNB77, a progressive
            form of autosomal-recessive nonsyndromic hearing loss (ARNSHL), was
            identified.
REFERENCE   10 (bases 1 to 7208)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Odell,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC064800.8, AC091139.9 and
            AC018931.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a highly conserved protein consisting
            entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains,
            thought to be involved in targeting proteins to the plasma
            membrane. Studies in mice show that this gene is expressed in the
            mechanosensory hair cells in the inner ear, and mutations in this
            gene lead to auditory defects, indicating that this gene is
            essential for normal hair cell function. Screening of human
            families segregating deafness identified a mutation in this gene
            which causes DFNB77, a progressive form of autosomal-recessive
            nonsyndromic hearing loss (ARNSHL). Alternatively spliced
            transcript variants encoding different isoforms have been noted for
            this gene. [provided by RefSeq, Mar 2010].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000642948.1/ ENSP00000496347.1
            RefSeq Select criteria    :: based on manual assertion,
                                         conservation, expression, longest
                                         protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-317               AC064800.8         45040-45356
            318-432             AC064800.8         52991-53105
            433-513             AC064800.8         60224-60304
            514-698             AC064800.8         62460-62644
            699-797             AC064800.8         83970-84068
            798-946             AC064800.8         91336-91484
            947-1070            AC064800.8         98031-98154
            1071-1321           AC064800.8         100793-101043
            1322-1457           AC064800.8         107794-107929
            1458-1618           AC064800.8         108500-108660
            1619-1705           AC064800.8         109676-109762
            1706-1841           AC064800.8         110192-110327
            1842-1996           AC064800.8         122476-122630
            1997-2157           AC064800.8         124393-124553
            2158-2234           AC091139.9         2216-2292
            2235-2431           AC091139.9         4740-4936
            2432-2624           AC091139.9         7929-8121
            2625-2785           AC018931.9         183452-183612       c
            2786-3248           AC018931.9         180470-180932       c
            3249-3403           AC018931.9         179835-179989       c
            3404-3537           AC018931.9         177743-177876       c
            3538-3701           AC018931.9         167282-167445       c
            3702-3806           AC018931.9         165704-165808       c
            3807-3935           AC018931.9         163114-163242       c
            3936-4100           AC018931.9         162163-162327       c
            4101-4282           AC018931.9         158543-158724       c
            4283-4399           AC018931.9         154722-154838       c
            4400-4562           AC018931.9         153549-153711       c
            4563-4717           AC018931.9         149564-149718       c
            4718-4927           AC018931.9         145095-145304       c
            4928-5063           AC018931.9         144853-144988       c
            5064-5272           AC018931.9         142488-142696       c
            5273-5458           AC018931.9         141484-141669       c
            5459-5586           AC018931.9         138516-138643       c
            5587-5704           AC018931.9         130085-130202       c
            5705-5879           AC018931.9         127925-128099       c
            5880-6065           AC018931.9         126225-126410       c
            6066-6236           AC018931.9         109359-109529       c
            6237-6369           AC018931.9         105406-105538       c
            6370-6528           AC018931.9         103974-104132       c
            6529-7208           AC018931.9         97660-98339         c
FEATURES             Location/Qualifiers
     source          1..7208
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.1"
     gene            1..7208
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /note="lipoxygenase homology PLAT domains 1"
                     /db_xref="GeneID:125336"
                     /db_xref="HGNC:HGNC:26521"
                     /db_xref="MIM:613072"
     exon            1..317
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     CDS             188..7009
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /note="isoform 6 is encoded by transcript variant 6;
                     lipoxygenase homology domain-containing protein 1;
                     lipoxygenase homology domains 1"
                     /codon_start=1
                     /product="lipoxygenase homology domain-containing protein
                     1 isoform 6"
                     /protein_id="NP_001371403.1"
                     /db_xref="CCDS:CCDS92455.1"
                     /db_xref="GeneID:125336"
                     /db_xref="HGNC:HGNC:26521"
                     /db_xref="MIM:613072"
                     /translation="MMPQKKRRRKKDIDFLALYEAELLNYASEDDEGELEHEYYKARV
                     YEVVTATGDVRGAGTDANVFITLFGENGLSPKLQLTSKSKSAFEKGNVDVFRVRTNNV
                     GLIYKVRIEHDNTGLNASWYLDHVIVTDMKRPHLRYYFNCNNWLSKVEGDRQWCRDLL
                     ASFNPMDMPRGNKYEVKVYTGDVIGAGTDADVFINIFGEYGDTGERRLENEKDNFEKG
                     AEDRFILDAPDLGQLMKINVGHNNKGGSAGWFLSQIVIEDIGNKRKYDFPLNRWLALD
                     EDDGKIQRDILVGGAETTAITYIVTVFTGDVRGAGTKSKIYLVMYGARGNKNSGKIFL
                     EGGVFDRGRTDIFHIELAVLLSPLSRVSVGHGNVGVNRGWFCEKVVILCPFTGIQQTF
                     PCSNWLDEKKADGLIERQLYEMVSLRKKRLKKFPWSLWVWTTDLKKAGTNSPIFIQIY
                     GQKGRTDEILLNPNNKWFKPGIIEKFRIELPDLGRFYKIRVWHDKRSSGSGWHLERMT
                     LMNTLNKDKYNFNCNRWLDANEDDNEIVREMTAEGPTVRRIMGMARYHVTVCTGELEG
                     AGTDANVYLCLFGDVGDTGERLLYNCRNNTDLFEKGNADEFTIESVTMRNVRRVRIRH
                     DGKGSGSGWYLDRVLVREEGQPESDNVEFPCLRWLDKDKDDGQLVRELLPSDSSATLK
                     NFRYHISLKTGDVSGASTDSRVYIKLYGDKSDTIKQVLLVSDNNLKDYFERGRVDEFT
                     LETLNIGNINRLVIGHDSTGMHASWFLGSVQIRVPRQGKQYTFPANRWLDKNQADGRL
                     EVELYPSEVVEIQKLVHYEVEIWTGDVGGAGTSARVYMQIYGEKGKTEVLFLSSRSKV
                     FERASKDTFQLEAADVGEVYKLRLGHTGEGFGPSWFVDTVWLRHLVVREVDLTPEEEA
                     RKKKEKDKLRQLLKKERLKAKLQRKKKKRKGSDEEDEGEEEESSSSEESSSEEEEMEE
                     EEEEEEFGPGMQEVIEQHKFEAHRWLARGKEDNELVVELVPAGKPGPERNTYEVQVVT
                     GNVPKAGTDANVYLTIYGEEYGDTGERPLKKSDKSNKFEQGQTDTFTIYAIDLGALTK
                     IRIRHDNTGNRAGWFLDRIDITDMNNEITYYFPCQRWLAVEEDDGQLSRELLPVDESY
                     VLPQSEEGRGGGDNNPLDNLALEQKDKSTTFSVTIKTGVKKNAGTDANVFITLFGTQD
                     DTGMTLLKSSKTNSDKFERDSIEIFTVETLDLGDLWKVRLGHDNTGKAPGWFVDWVEV
                     DAPSLGKCMTFPCGRWLAKNEDDGSIIRDLFHAELQTRLYTPFVPYEITLYTSDVFAA
                     GTDANIFIIIYGCDAVCTQQKYLCTNKREQKQFFERKSASRFIVELEDVGEIIEKIRI
                     GHNNTGMNPGWHCSHVDIRRLLPDKDGAETLTFPCDRWLATSEDDKKTIRELVPYDIF
                     TEKYMKDGSLRQVYKEVEEPLDIVLYSVQIFTGNIPGAGTDAKVYITIYGDLGDTGER
                     YLGKSENRTNKFERGTADTFIIEAADLGVIYKIKLRHDNSKWCADWYVEKVEIWNDTN
                     EDEFLFLCGRWLSLKKEDGRLERLFYEKEYTGDRSSNCSSPADFWEIALSSKMADVDI
                     STVTGPMADYVQEGPIIPYYVSVTTGKHKDAATDSRAFIFLIGEDDERSKRIWLDYPR
                     GKRGFSRGSVEEFYVAGLDVGIIKKIELGHDGASPESCWLVEELCLAVPTQGTKYMLN
                     CNCWLAKDRGDGITSRVFDLLDAMVVNIGVKVLYEMTVWTGDVVGGGTDSNIFMTLYG
                     INGSTEEMQLDKKKARFEREQNDTFIMEILDIAPFTKMRIRIDGLGSRPEWFLERILL
                     KNMNTGDLTMFYYGDWLSQRKGKKTLVCEMCAVIDEEEMMEWTSYTVAVKTSDILGAG
                     TDANVFIIIFGENGDSGTLALKQSANWNKFERNNTDTFNFPDMLSLGHLCKLRVWHDN
                     KGIFPGWHLSYVDVKDNSRDETFHFQCDCWLSKSEGDGQTVRDFACANNKICDELEET
                     TYEIVIETGNGGETRENVWLILEGRKNRSKEFLMENSSRQRAFRKGTTDTFEFDSIYL
                     GDIASLCVGHLAREDRFIPKRELAWHVKTITITEMEYGNVYFFNCDCLIPLKRKRKYF
                     KVFEVTKTTESFASKVQSLVPVKYEVIVTTGYEPGAGTDANVFVTIFGANGDTGKREL
                     KQKMRNLFERGSTDRFFLETLELGELRKVRLEHDSSGYCSGWLVEKVEVTNTSTGVAT
                     IFNCGRWLDKKRGDGLTWRDLFPSV"
     exon            318..432
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            433..513
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            514..698
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            699..797
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            798..946
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            947..1070
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            1071..1321
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            1322..1457
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            1458..1618
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            1619..1705
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            1706..1841
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            1842..1996
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            1997..2157
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            2158..2234
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            2235..2431
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            2432..2624
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            2625..2785
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            2786..3248
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            3249..3403
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            3404..3537
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            3538..3701
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            3702..3806
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            3807..3935
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            3936..4100
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            4101..4282
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            4283..4399
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            4400..4562
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            4563..4717
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            4718..4927
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            4928..5063
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            5064..5272
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            5273..5458
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            5459..5586
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            5587..5704
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            5705..5879
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            5880..6065
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            6066..6236
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            6237..6369
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            6370..6528
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     exon            6529..7208
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      7188..7193
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /note="hexamer: AATAAT"
     polyA_site      7208
                     /gene="LOXHD1"
                     /gene_synonym="DFNB77; LH2D1"
                     /note="major polyA site"
ORIGIN      
        1 agagaaggca gagggaacag caccttgggc acggggaagc caagaaaacg gggcactctg
       61 gcccacccag gcctgagcta taggagggcc gtgggcgcca gagctcaggg aggaggtctc
      121 aggttcccgc aggtgtgagg aggcggcaca gtgagcctgc gagcgctggg agaaggcagc
      181 cgacagaatg atgccccaga agaaaaggcg gaggaagaag gacatcgact tcctggccct
      241 gtacgaagcg gagctgctga actacgcctc ggaggacgac gagggggagc tggaacacga
      301 gtactacaag gccagagtgt atgaagtggt cacagccacg ggggatgttc gcggtgcagg
      361 gacggatgcc aatgtcttca tcacgctttt tggagagaat gggctctctc ccaagctcca
      421 gctcaccagc aagagcaagt ctgcctttga gaagggcaac gtcgatgtgt tccgggtgag
      481 aaccaacaat gtgggcctca tctataaagt caggattgag catgacaaca cgggcttgaa
      541 tgccagctgg tacctggacc atgtgattgt gaccgacatg aagaggcctc atctccgtta
      601 ctacttcaac tgcaacaact ggctgagcaa ggtggaaggt gaccgccagt ggtgccgtga
      661 cctgctggcc agcttcaacc ccatggacat gcccagaggt aataagtatg aagtcaaggt
      721 atacactggt gatgtaattg gtgcagggac agatgctgat gtcttcatca atatttttgg
      781 agagtatgga gacacagggg agcgtaggct agaaaatgaa aaggacaact ttgaaaaggg
      841 agctgaagac aggttcatcc tggatgcccc ggatttgggg cagctgatga agatcaatgt
      901 tggccacaac aataaggggg gctctgcagg ttggttcctg tcccagatag tcattgaaga
      961 tattgggaac aaaagaaaat atgacttccc ccttaaccgc tggctggcct tggacgaaga
     1021 cgatggcaaa atccaaaggg atatcttagt gggcggagct gagaccacag ctattacgta
     1081 tattgtcacc gtcttcactg gggatgtccg gggggctggt accaaatcca aaatctactt
     1141 ggtcatgtat ggggccagag ggaataagaa cagtgggaaa atcttcctgg agggcggcgt
     1201 gtttgaccga ggccgcacgg acatcttcca catcgagctg gctgtcctcc ttagccccct
     1261 gagtcgggtc tccgtcgggc atggcaatgt gggtgtcaac agaggctggt tctgtgagaa
     1321 ggtggtgatt ctgtgcccct tcactggtat ccagcagacc ttcccttgta gcaactggct
     1381 ggatgagaag aaagcggatg ggttgattga gaggcagctc tatgagatgg tgtctctcag
     1441 gaagaagcgg ctgaaaaaat tcccttggtc cctgtgggtc tggacaaccg acctaaagaa
     1501 agctggtacc aactctccca tcttcatcca gatttatggg cagaaggggc ggacagatga
     1561 gattctcctg aatcccaaca acaagtggtt caaacccggc ataatcgaga agtttaggat
     1621 tgagctcccg gatcttggca ggttttataa gattcgagta tggcatgata aaaggagttc
     1681 tggttctgga tggcatttag aaaggatgac cctgatgaac actctgaaca aagacaagta
     1741 caacttcaat tgcaaccgct ggctggatgc caatgaggat gacaatgaga tagtgaggga
     1801 aatgactgca gaaggcccaa cagtgcgcag gatcatgggc atggcccggt accatgtgac
     1861 tgtgtgcaca ggtgaacttg aaggtgctgg gaccgatgcc aacgtctatc tctgcctttt
     1921 tggtgatgtg ggggacacgg gggaacggct gctctacaac tgcaggaata acacagacct
     1981 gtttgaaaag ggcaatgctg acgagttcac tatcgagtct gtcaccatgc ggaatgtgag
     2041 gcgggtgagg atcagacacg atggcaaagg ctccggcagc ggctggtacc tggacagagt
     2101 gctggtgaga gaggaggggc agcctgagag cgacaacgtg gagttcccat gtctcaggtg
     2161 gttggacaag gataaggatg atgggcagct ggtccgagag ttgctaccca gtgacagcag
     2221 cgcgacactg aagaactttc gctatcacat cagcttgaag actggggatg tctctggggc
     2281 cagcacggat tctagagtct acatcaagct ctatggggat aaatctgaca ccatcaagca
     2341 agttcttctt gtctctgaca acaacctcaa agactacttt gaacgtggcc gggtggatga
     2401 gttcaccctc gagaccctga acattggaaa tatcaaccgg ctggtgattg ggcatgacag
     2461 cactggcatg catgccagct ggttcctggg cagcgttcag atccgtgtgc cccgtcaagg
     2521 caagcagtac acctttcccg ccaaccgctg gctggacaag aaccaggctg acgggcgcct
     2581 ggaggtggag ctgtatccca gcgaggtggt ggagatccag aaattggtcc actatgaggt
     2641 tgagatttgg acaggagatg tgggtggcgc aggcaccagt gcccgagtct acatgcagat
     2701 ctatggagag aaaggcaaga cagaagtgct cttcctctcc agccgctcaa aagtttttga
     2761 acgggcgtcc aaggacacat tccagcttga ggcggccgac gtgggcgagg tctataagct
     2821 ccggctcggg cacacgggcg agggctttgg gcccagctgg ttcgtggaca ccgtgtggct
     2881 gcggcacctg gtggtgcggg aggtggacct cacgccggag gaggaggccc ggaagaagaa
     2941 ggagaaggac aagctgcggc agctgctcaa gaaggagcgg ctgaaggcca agctgcagag
     3001 gaagaagaag aagaggaagg gcagcgacga agaggacgag ggggaggaag aggagtcgtc
     3061 ctcatcagag gagtcctcgt cagaggagga ggagatggaa gaagaggagg aagaggagga
     3121 gtttgggccg gggatgcagg aggtgattga gcagcacaag ttcgaagccc accgctggct
     3181 ggcccggggc aaggaggaca acgaacttgt cgtggagttg gtgccagctg gcaagccggg
     3241 tcctgagcga aacacctatg aggttcaggt ggtcacgggg aatgtgccca aggccggcac
     3301 tgatgctaac gtctacctaa ccatctacgg cgaggagtat ggagacacgg gcgaacgacc
     3361 cctgaagaag tcagacaagt ccaacaaatt tgagcagggg cagacagaca ccttcaccat
     3421 ctatgccatt gacctggggg ccctgaccaa gattcggatt cgccacgaca acacaggcaa
     3481 cagagcaggc tggttcctgg acagaataga cattactgac atgaacaacg agatcacgta
     3541 ctactttcca tgccaacgtt ggctggcagt ggaggaagat gatggccagc tgtccaggga
     3601 gctgttgcca gtggatgagt cctatgtgct gccacagagc gaggagggta ggggaggcgg
     3661 tgacaacaac cccctcgaca acctggccct ggagcagaaa gataaatcta ccacattctc
     3721 agtgaccata aagactgggg ttaagaagaa tgcgggcaca gatgctaatg tcttcatcac
     3781 actctttggc acacaggatg acactggaat gaccctcctg aagtcctcca agacaaacag
     3841 cgataagttt gagagggaca gcattgaaat cttcacggtg gagacgctgg atctgggaga
     3901 cctgtggaaa gtccggcttg gccatgacaa cacaggcaag gccccaggct ggtttgtaga
     3961 ctgggtagag gtggatgccc catctcttgg gaagtgcatg acgtttccct gtggccgctg
     4021 gctggccaaa aacgaagacg acgggtccat catcagagac ctcttccatg cagagcttca
     4081 gacgaggctg tacacaccat ttgttcctta cgagatcacc ctctacacca gtgatgtctt
     4141 tgctgctggg acagatgcca acatcttcat catcatctat ggctgcgatg ccgtgtgcac
     4201 ccagcagaag tatctgtgta ccaacaagag ggaacagaag cagttctttg agaggaagtc
     4261 tgcctcccgc ttcatcgtag agttagaaga tgtgggagaa atcattgaaa aaattcggat
     4321 tggccataat aacacgggca tgaatcctgg gtggcactgc tctcacgtgg acatccgcag
     4381 gctcctcccg gataaagacg gtgcagagac cttgactttc ccatgcgatc ggtggcttgc
     4441 cacctctgag gatgacaaaa agaccattcg agaactggtt ccatatgaca tcttcactga
     4501 gaaatacatg aaagatgggt ccttacggca agtctacaag gaagtagaag agcctctgga
     4561 cattgtgctg tactcggtgc agatcttcac agggaacatt cctggggcag ggacggatgc
     4621 caaggtgtac atcaccatct atggagacct cggggacact ggggagcgat accttggcaa
     4681 gtcagagaac cggaccaaca agttcgagag aggaacggct gacaccttca tcatcgaggc
     4741 cgctgaccta ggcgtcatct acaagatcaa gctccgccat gacaactcca agtggtgcgc
     4801 agactggtac gtggagaagg tggagatctg gaatgacacc aacgaggacg agttcctgtt
     4861 cctatgcggg cgctggctct ccctgaagaa ggaggatggg cgactcgaga ggctctttta
     4921 cgagaaggag tacactgggg accgcagcag caactgcagc agccctgctg acttctggga
     4981 gatcgccctg agctccaaga tggccgatgt cgacatcagc acagtgaccg ggcccatggc
     5041 tgactacgtt caagagggcc caattattcc ctactatgtg tcagtcacca ctgggaagca
     5101 caaggacgcg gccactgaca gccgagcctt catctttctc atcggggagg atgatgaacg
     5161 tagtaagcgc atctggttgg actacccccg agggaagagg ggcttcagcc gtggctctgt
     5221 ggaggagttc tacgtcgcag gcttggatgt gggcatcatc aagaaaatag agctgggcca
     5281 tgacggggcc tcccctgaga gctgctggct ggtggaagag ttgtgtttgg cagtgcccac
     5341 ccagggcacc aagtacatgt tgaactgtaa ctgctggctg gccaaggaca gaggcgacgg
     5401 catcacctcc cgtgtcttcg acctcttgga tgccatggtg gtgaacattg gggtgaaggt
     5461 tctctatgaa atgacggtgt ggacagggga tgtggttggc gggggcactg actccaacat
     5521 cttcatgacc ctctacggca tcaacgggag cacagaggag atgcagctgg acaaaaagaa
     5581 agccaggttt gagcgggagc agaacgacac cttcatcatg gagatcctag acattgctcc
     5641 attcaccaag atgcggatcc ggattgatgg cctgggcagt cggccggagt ggttcctgga
     5701 gaggatccta ctgaagaaca tgaacactgg agacctgacc atgttctact atggagactg
     5761 gctgtcccag cggaagggca agaagaccct ggtgtgtgaa atgtgtgccg ttatcgatga
     5821 ggaagaaatg atggagtgga cctcctacac cgtcgcagtt aagaccagcg acatcctggg
     5881 agcaggcact gatgccaacg tgttcatcat catcttcggg gagaacgggg atagtgggac
     5941 actggccctg aagcagtcgg caaactggaa caagtttgag cggaacaaca cggacacatt
     6001 caacttccct gacatgctga gcttgggcca cctctgcaag ctgagggtct ggcacgacaa
     6061 caaagggata tttcctggct ggcatctgag ctatgtcgat gtgaaggaca actcccgcga
     6121 cgagaccttc cacttccagt gtgactgctg gctctccaag agtgagggtg acgggcagac
     6181 ggtccgcgac tttgcctgtg ccaacaacaa gatctgtgat gagctggaag agaccaccta
     6241 cgagatcgtc atagaaacgg gcaacggagg cgaaaccagg gagaacgtct ggctcatcct
     6301 ggagggcagg aagaaccgat ccaaagagtt tctcatggaa aattcttcta ggcagcgggc
     6361 ctttaggaag gggaccacag acacgtttga gtttgacagc atctacttgg gggacattgc
     6421 ctccctctgt gtgggccacc ttgccaggga agaccggttt atccccaaga gagaacttgc
     6481 ctggcatgtc aagaccatca ccatcaccga gatggagtac ggcaatgtgt acttctttaa
     6541 ctgtgactgc ctcatccccc tcaagaggaa gaggaagtac ttcaaggtat tcgaggttac
     6601 caagacgaca gagagctttg ccagcaaggt ccagagcctg gtgcccgtca agtacgaagt
     6661 catcgtgaca acaggctatg agccaggggc aggcactgat gccaacgtct tcgtgaccat
     6721 ctttggggcc aacggagaca caggcaagcg ggagctgaag cagaaaatgc gcaacctctt
     6781 cgagcggggc agcacagacc gcttcttcct ggagacgctg gagctgggtg agctgcgcaa
     6841 ggtgcgcctg gagcacgaca gcagtggcta ctgctcaggc tggctggtgg agaaggtgga
     6901 ggtcaccaac accagcaccg gcgtggccac catcttcaac tgtggcaggt ggctggacaa
     6961 gaagcggggg gatggactca cctggagaga cctcttccct tctgtctgag gggctagggc
     7021 ccccaccctc tcactgagat gccccaatct cacatttctg ccctccacct tggcggtcag
     7081 cagcccttca aagcctctag cattggcact gggggctagc agtccactga gaacttcatg
     7141 gggtcctgct ccccacccta cccccagttt attgaaccta cagtgataat aattagcatg
     7201 tgtcataa
//
