LOCUS       NM_000304               1828 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens peripheral myelin protein 22 (PMP22), transcript
            variant 1, mRNA.
ACCESSION   NM_000304
VERSION     NM_000304.4
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 1828)
  AUTHORS   Prior,R., Silva,A., Vangansewinkel,T., Idkowiak,J.,
            Tharkeshwar,A.K., Hellings,T.P., Michailidou,I., Vreijling,J.,
            Loos,M., Koopmans,B., Vlek,N., Agaser,C., Kuipers,T.B.,
            Michiels,C., Rossaert,E., Verschoren,S., Vermeire,W., de Laat,V.,
            Dehairs,J., Eggermont,K., van den Biggelaar,D., Bademosi,A.T.,
            Meunier,F.A., vandeVen,M., Van Damme,P., Mei,H., Swinnen,J.V.,
            Lambrichts,I., Baas,F., Fluiter,K., Wolfs,E. and Van Den Bosch,L.
  TITLE     PMP22 duplication dysregulates lipid homeostasis and plasma
            membrane organization in developing human Schwann cells
  JOURNAL   Brain 147 (9), 3113-3130 (2024)
   PUBMED   38743588
  REMARK    GeneRIF: PMP22 duplication dysregulates lipid homeostasis and
            plasma membrane organization in developing human Schwann cells.
REFERENCE   2  (bases 1 to 1828)
  AUTHORS   Yao,L., Li,M., Liu,L., Fan,Z., Jia,Y., Wang,J. and Du,F.
  TITLE     [Genetic analysis of a Chinese pedigree affected with atypical
            Charcot-Marie-Tooth disease type 1A due to duplication of PMP22
            gene]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 41 (4), 443-449 (2024)
   PUBMED   38565510
  REMARK    GeneRIF: [Genetic analysis of a Chinese pedigree affected with
            atypical Charcot-Marie-Tooth disease type 1A due to duplication of
            PMP22 gene].
REFERENCE   3  (bases 1 to 1828)
  AUTHORS   Suter,U., Snipes,G.J., Schoener-Scott,R., Welcher,A.A., Pareek,S.,
            Lupski,J.R., Murphy,R.A., Shooter,E.M. and Patel,P.I.
  TITLE     Regulation of tissue-specific expression of alternative peripheral
            myelin protein-22 (PMP22) gene transcripts by two promoters
  JOURNAL   J Biol Chem 269 (41), 25795-25808 (1994)
   PUBMED   7929285
REFERENCE   4  (bases 1 to 1828)
  AUTHORS   Roa,B.B., Dyck,P.J., Marks,H.G., Chance,P.F. and Lupski,J.R.
  TITLE     Dejerine-Sottas syndrome associated with point mutation in the
            peripheral myelin protein 22 (PMP22) gene
  JOURNAL   Nat Genet 5 (3), 269-273 (1993)
   PUBMED   8275092
REFERENCE   5  (bases 1 to 1828)
  AUTHORS   Chrestian,N.
  TITLE     Hereditary Neuropathy with Liability to Pressure Palsies
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301566
REFERENCE   6  (bases 1 to 1828)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301532
REFERENCE   7  (bases 1 to 1828)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 1 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301384
REFERENCE   8  (bases 1 to 1828)
  AUTHORS   Takahashi,E., Takeda,O., Himoro,M., Nanao,K., Takada,G. and
            Hayasaka,K.
  TITLE     Localization of PMP-22 gene (candidate gene for the
            Charcot-Marie-Tooth disease 1A) to band 17p11.2 by direct R-banding
            fluorescence in situ hybridization
  JOURNAL   Jpn J Hum Genet 37 (4), 303-306 (1992)
   PUBMED   1297450
REFERENCE   9  (bases 1 to 1828)
  AUTHORS   Lupski,J.R., de Oca-Luna,R.M., Slaugenhaupt,S., Pentao,L.,
            Guzzetta,V., Trask,B.J., Saucedo-Cardenas,O., Barker,D.F.,
            Killian,J.M., Garcia,C.A., Chakravarti,A. and Patel,P.I.
  TITLE     DNA duplication associated with Charcot-Marie-Tooth disease type 1A
  JOURNAL   Cell 66 (2), 219-232 (1991)
   PUBMED   1677316
REFERENCE   10 (bases 1 to 1828)
  AUTHORS   Lewis,D.O.
  TITLE     Diagnostic evaluation of the juvenile offender: toward the
            clarification of often overlooked psychopathology
  JOURNAL   Child Psychiatry Hum Dev 6 (4), 198-213 (1976)
   PUBMED   954484
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB504971.1, D11428.1,
            BQ212717.1 and CK818720.1.
            
            On Nov 22, 2018 this sequence version replaced NM_000304.3.
            
            Summary: This gene encodes an integral membrane protein that is a
            major component of myelin in the peripheral nervous system. Studies
            suggest two alternately used promoters drive tissue-specific
            expression. Various mutations of this gene are causes of
            Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and
            hereditary neuropathy with liability to pressure palsies.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jul 2013].
            
            Transcript Variant: This variant (1) encodes isoform 1. Variants
            1-5 encode the same isoform (1).
            
            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##
            Transcript exon combination :: SRR3476690.358008.1,
                                           SRR5189652.93701.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2162568
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000312280.9/ ENSP00000308937.3
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                DB504971.1         32-50
            20-748              D11428.1           1-729
            749-1266            BQ212717.1         140-657
            1267-1828           CK818720.1         18-579              c
FEATURES             Location/Qualifiers
     source          1..1828
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p12"
     gene            1..1828
                     /gene="PMP22"
                     /gene_synonym="CIDP; CMT1A; CMT1E; DSS; GAS-3; GAS3;
                     HMSNIA; HNPP; Sp110"
                     /note="peripheral myelin protein 22"
                     /db_xref="GeneID:5376"
                     /db_xref="HGNC:HGNC:9118"
                     /db_xref="MIM:601097"
     exon            1..173
                     /gene="PMP22"
                     /gene_synonym="CIDP; CMT1A; CMT1E; DSS; GAS-3; GAS3;
                     HMSNIA; HNPP; Sp110"
                     /inference="alignment:Splign:2.1.0"
     exon            174..285
                     /gene="PMP22"
                     /gene_synonym="CIDP; CMT1A; CMT1E; DSS; GAS-3; GAS3;
                     HMSNIA; HNPP; Sp110"
                     /inference="alignment:Splign:2.1.0"
     CDS             208..690
                     /gene="PMP22"
                     /gene_synonym="CIDP; CMT1A; CMT1E; DSS; GAS-3; GAS3;
                     HMSNIA; HNPP; Sp110"
                     /note="isoform 1 is encoded by transcript variant 1;
                     growth arrest-specific protein 3; peripheral myelin
                     protein 22 kDa; Charcot-Marie-Tooth neuropathy 1A (greatly
                     reduced nerve conduction velocity, hereditary motor
                     sensory neuropathy Ia)"
                     /codon_start=1
                     /product="peripheral myelin protein 22 isoform 1"
                     /protein_id="NP_000295.1"
                     /db_xref="CCDS:CCDS11168.1"
                     /db_xref="GeneID:5376"
                     /db_xref="HGNC:HGNC:9118"
                     /db_xref="MIM:601097"
                     /translation="MLLLLLSIIVLHVAVLVLLFVSTIVSQWIVGNGHATDLWQNCST
                     SSSGNVHHCFSSSPNEWLQSVQATMILSIIFSILSLFLFFCQLFTLTKGGRFYITGIF
                     QILAGLCVMSAAAIYTVRHPEWHLNSDYSYGFAYILAWVAFPLALLSGVIYVILRKRE
                     "
     exon            286..385
                     /gene="PMP22"
                     /gene_synonym="CIDP; CMT1A; CMT1E; DSS; GAS-3; GAS3;
                     HMSNIA; HNPP; Sp110"
                     /inference="alignment:Splign:2.1.0"
     exon            386..526
                     /gene="PMP22"
                     /gene_synonym="CIDP; CMT1A; CMT1E; DSS; GAS-3; GAS3;
                     HMSNIA; HNPP; Sp110"
                     /inference="alignment:Splign:2.1.0"
     exon            527..1828
                     /gene="PMP22"
                     /gene_synonym="CIDP; CMT1A; CMT1E; DSS; GAS-3; GAS3;
                     HMSNIA; HNPP; Sp110"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1808..1813
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMP22"
                     /gene_synonym="CIDP; CMT1A; CMT1E; DSS; GAS-3; GAS3;
                     HMSNIA; HNPP; Sp110"
                     /note="hexamer: AATAAA"
     polyA_site      1828
                     /gene="PMP22"
                     /gene_synonym="CIDP; CMT1A; CMT1E; DSS; GAS-3; GAS3;
                     HMSNIA; HNPP; Sp110"
                     /note="major polyA site"
ORIGIN      
        1 agttacaggg agcaccacca gggaacatct cggggagcct ggttggaagc tgcaggctta
       61 gtctgtcggc tgcgggtctc tgactgccct gtggggaggg tcttgcctta acatcccttg
      121 catttggctg caaagaaatc tgcttggaag aaggggttac gctgtttggc cgggcagaaa
      181 ctccgctgag cagaacttgc cgccagaatg ctcctcctgt tgctgagtat catcgtcctc
      241 cacgtcgcgg tgctggtgct gctgttcgtc tccacgatcg tcagccaatg gatcgtgggc
      301 aatggacacg caactgatct ctggcagaac tgtagcacct cttcctcagg aaatgtccac
      361 cactgtttct catcatcacc aaacgaatgg ctgcagtctg tccaggccac catgatcctg
      421 tcgatcatct tcagcattct gtctctgttc ctgttcttct gccaactctt caccctcacc
      481 aaggggggca ggttttacat cactggaatc ttccaaattc ttgctggtct gtgcgtgatg
      541 agtgctgcgg ccatctacac ggtgaggcac ccggagtggc atctcaactc ggattactcc
      601 tacggtttcg cctacatcct ggcctgggtg gccttccccc tggcccttct cagcggtgtc
      661 atctatgtga tcttgcggaa acgcgaatga ggcgcccaga cggtctgtct gaggctctga
      721 gcgtacatag ggaagggagg aagggaaaac agaaagcaga caaagaaaaa agagctagcc
      781 caaaatccca aactcaaacc aaaccaaaca gaaagcagtg gaggtggggg ttgctgttga
      841 ttgaagatgt atataatatc tccggtttat aaaacctatt tataacactt tttacatata
      901 tgtacatagt attgtttgct ttttatgttg accatcagcc tcgtgttgag ccttaaagaa
      961 gtagctaagg aactttacat cctaacagta taatccagct cagtattttt gttttgtttt
     1021 ttgtttgttt gttttgtttt acccagaaat aagataactc catctcgccc cttccctttc
     1081 atctgaaaga agatacctcc ctcccagtcc acctcattta gaaaaccaaa gtgtgggtag
     1141 aaaccccaaa tgtccaaaag cccttttctg gtgggtgacc cagtgcatcc aacagaaaca
     1201 gccgctgccc gaacctctgt gtgaagcttt acgcgcacac ggacaaaatg cccaaactgg
     1261 agcccttgca aaaacacggc ttgtggcatt ggcatacttg cccttacagg tggagtatct
     1321 tcgtcacaca tctaaatgag aaatcagtga caacaagtct ttgaaatggt gctatggatt
     1381 taccattcct tattatcact aatcatctaa acaactcact ggaaatccaa ttaacaattt
     1441 tacaacataa gatagaatgg agacctgaat aattctgtgt aatataaatg gtttataact
     1501 gcttttgtac ctagctaggc tgctattatt actataatga gtaaatcata aagccttcat
     1561 cactcccaca tttttcttac ggtcggagca tcagaacaag cgtctagact ccttgggacc
     1621 gtgagttcct agagcttggc tgggtctagg ctgttctgtg cctccaagga ctgtctggca
     1681 atgacttgta ttggccacca actgtagatg tatatatggt gcccttctga tgctaagact
     1741 ccagaccttt tgtttttgct ttgcattttc tgattttata ccaactgtgt ggactaagat
     1801 gcattaaaat aaacatcaga gtaactca
//
