LOCUS       NM_001108028            3153 bp    mRNA    linear   ROD 26-FEB-2024
DEFINITION  Rattus norvegicus L-2-hydroxyglutarate dehydrogenase (L2hgdh),
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001108028 XM_001080412 XM_234264
VERSION     NM_001108028.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 3153)
  AUTHORS   Tai H and Zhang Z.
  TITLE     A novel compound heterozygous mutation in a Chinese boy with
            L-2-hydroxyglutaric aciduria: a case study
  JOURNAL   BMC Neurol 15, 117 (2015)
   PUBMED   26208971
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3153)
  AUTHORS   Rzem R, Achouri Y, Marbaix E, Schakman O, Wiame E, Marie S, Gailly
            P, Vincent MF, Veiga-da-Cunha M and Van Schaftingen E.
  TITLE     A mouse model of L-2-hydroxyglutaric aciduria, a disorder of
            metabolite repair
  JOURNAL   PLoS One 10 (3), e0119540 (2015)
   PUBMED   25763823
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3153)
  AUTHORS   Jellouli NK, Hadj Salem I, Ellouz E, Kamoun Z, kamoun F, tlili A,
            Kaabachi N, Triki C and Fakhfakh F.
  CONSRTM   Tunisian Network on Mental Retardation study
  TITLE     Founder effect confirmation of c.241A>G mutation in the L2HGDH gene
            and characterization of oxidative stress parameters in six Tunisian
            families with L-2-hydroxyglutaric aciduria
  JOURNAL   J Hum Genet 59 (4), 216-222 (2014)
   PUBMED   24573090
REFERENCE   4  (bases 1 to 3153)
  AUTHORS   Faiyaz-Ul-Haque M, Al-Sayed MD, Faqeih E, Jamil M, Saeed A, Amoudi
            MS, Kaya N, Abalkhail H, Al-Abdullatif A, Rashed M, Al-Owain M,
            Peltekova I and Zaidi SH.
  TITLE     Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric
            aciduria in Arab kindreds
  JOURNAL   Ann Saudi Med 34 (2), 107-114 (2014)
   PUBMED   24894778
REFERENCE   5  (bases 1 to 3153)
  AUTHORS   Rzem R, Vincent MF, Van Schaftingen E and Veiga-da-Cunha M.
  TITLE     L-2-hydroxyglutaric aciduria, a defect of metabolite repair
  JOURNAL   J Inherit Metab Dis 30 (5), 681-689 (2007)
   PUBMED   17603759
  REMARK    GeneRIF: L-2-hydroxyglutarate accumulates as a result of a
            deficiency in FAD-linked L-2-hydroxyglutarate dehydrogenase.
            mitochondrial L-malate dehydrogenase is responsible for the
            excretion of L-2-hydroxyglutarate in this condition.
REFERENCE   6  (bases 1 to 3153)
  AUTHORS   Rzem R, Van Schaftingen E and Veiga-da-Cunha M.
  TITLE     The gene mutated in l-2-hydroxyglutaric aciduria encodes
            l-2-hydroxyglutarate dehydrogenase
  JOURNAL   Biochimie 88 (1), 113-116 (2006)
   PUBMED   16005139
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from CH473947.1.
            
            On or before Oct 4, 2007 this sequence version replaced
            XM_001080412.1, XM_234264.4.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMD00132261, SAMD00132262
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..3153
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10116"
                     /chromosome="6"
                     /map="6q24"
     gene            1..3153
                     /gene="L2hgdh"
                     /gene_synonym="RGD1306250"
                     /note="L-2-hydroxyglutarate dehydrogenase"
                     /db_xref="GeneID:314196"
                     /db_xref="RGD:1306250"
     exon            1..162
                     /gene="L2hgdh"
                     /gene_synonym="RGD1306250"
                     /inference="alignment:Splign:2.1.0"
     CDS             23..1414
                     /gene="L2hgdh"
                     /gene_synonym="RGD1306250"
                     /EC_number="1.1.99.2"
                     /codon_start=1
                     /product="L-2-hydroxyglutarate dehydrogenase,
                     mitochondrial"
                     /protein_id="NP_001101498.1"
                     /db_xref="GeneID:314196"
                     /db_xref="RGD:1306250"
                     /translation="MWPTLRYVGGVCGRIGCSVAGGFLRASGPVSGVLGLLCRGGRSS
                     STSSFDIVIVGGGIVGLASARTLILKHPELSIGVVEKEKDLALHQTGRNSGVIHSGIY
                     YKPESLKAKLCVEGAALIYEYCNLKGIPYRQCGKLIVAVEQEEIPRLQALYERGLQNG
                     VQGLRLIQQEDIKKKEPYCRGLMAIDCPYTGIVNYQQVALSFAQDFQEAGGSILKDFE
                     VKDIGIAKEDPPRSKDGMKYPIAVKNSKGKEIQCRYVVTCAGLYSDRISELSGCNPDP
                     QIVPFRGDYLVLKPEKGYLVKGNIYPVPDSRLPFLGVHFTPRLDGSIWLGPNAVLAFK
                     REGYRPFDFNARDIMEVILKSGFIKLVFQNFSYGASEIYKACFLSETVKHLQKFIPEI
                     TTNDVLRGPAGVRAQALDRDGNLVDDFVFDGGAGEIGDRILHVRNAPSPAATSSLAIS
                     RMIAEEVQQRFKL"
     exon            163..278
                     /gene="L2hgdh"
                     /gene_synonym="RGD1306250"
                     /inference="alignment:Splign:2.1.0"
     exon            279..430
                     /gene="L2hgdh"
                     /gene_synonym="RGD1306250"
                     /inference="alignment:Splign:2.1.0"
     exon            431..562
                     /gene="L2hgdh"
                     /gene_synonym="RGD1306250"
                     /inference="alignment:Splign:2.1.0"
     exon            563..725
                     /gene="L2hgdh"
                     /gene_synonym="RGD1306250"
                     /inference="alignment:Splign:2.1.0"
     exon            726..760
                     /gene="L2hgdh"
                     /gene_synonym="RGD1306250"
                     /inference="alignment:Splign:2.1.0"
     exon            761..928
                     /gene="L2hgdh"
                     /gene_synonym="RGD1306250"
                     /inference="alignment:Splign:2.1.0"
     exon            929..1086
                     /gene="L2hgdh"
                     /gene_synonym="RGD1306250"
                     /inference="alignment:Splign:2.1.0"
     exon            1087..1218
                     /gene="L2hgdh"
                     /gene_synonym="RGD1306250"
                     /inference="alignment:Splign:2.1.0"
     exon            1219..3153
                     /gene="L2hgdh"
                     /gene_synonym="RGD1306250"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 ggaagaggag gcggtgtaga ccatgtggcc gactctgcgt tatgtgggag gtgtctgcgg
       61 acggattggg tgcagcgttg ctgggggctt cctccgcgct agcgggccgg tgtccggggt
      121 gctcgggcta ctctgcaggg gtggtcgcag ctccagtacc agctcatttg atatagtcat
      181 cgttggtggt ggaattgtgg ggcttgcctc tgccagaaca ctcatcctga aacatcccga
      241 actttcaatt ggtgtggtgg aaaaggagaa agatttggct cttcaccaga ctggacggaa
      301 cagtggtgtc atacatagtg gaatttacta taaaccggag tcactgaaag ctaaattgtg
      361 tgtggaaggt gcagccctca tctatgagta ctgtaacctc aagggaattc cctacaggca
      421 atgtggcaag ctaatagtag ctgttgaaca agaagaaatt cccagacttc aggccctgta
      481 tgagcgtggc ctgcagaatg gagtccaagg cttgaggctg atccagcagg aggatataaa
      541 aaagaaggaa ccatattgca ggggtctaat ggctattgac tgtccgtaca ctggcattgt
      601 gaactaccaa caggtagcgt tgtcatttgc ccaggatttc caagaagcag gtggctctat
      661 cttgaaagat ttcgaggtaa aggatattgg aatagctaaa gaagaccctc caagaagtaa
      721 ggatgggatg aaatatccaa tcgctgtcaa gaatagtaag ggaaaggaaa ttcagtgtcg
      781 atatgttgtg acatgtgccg gtctttactc agaccgtatt tcagagttga gtggctgcaa
      841 tcctgaccct caaattgtcc cattccgtgg agattacctg gtgttaaagc cagaaaaggg
      901 ctaccttgta aaaggaaata tttatccggt cccggacagc cgacttccgt ttctaggcgt
      961 tcacttcaca ccaaggctgg atggctctat ttggctcggg cctaatgcag tgcttgcctt
     1021 taaacgggaa ggctacagac cctttgactt caatgccaga gatattatgg aagtaattct
     1081 caaaagtggt ttcattaaat tggtgttcca gaatttctct tatggagcta gcgaaatata
     1141 taaagcctgt tttctcagtg aaacagtgaa gcatcttcaa aagttcattc ctgaaatcac
     1201 caccaacgat gtacttcgag gccctgctgg agtgcgagcc caggccctgg acagagatgg
     1261 aaatctggtg gacgattttg tgtttgatgg aggagccggt gagattggag atcgaattct
     1321 tcacgtgaga aatgcacctt cgcctgcagc cacttcttcc ctggcaattt ctagaatgat
     1381 agcagaggaa gtgcagcaga ggtttaagtt atgagcgacg gagggcgctg tgccagcaac
     1441 cttacattct ccacatcagc aacaaagtct accagctgca ttttaaaatt agaatttaag
     1501 aaaacaattt taaaaccatg ccttttaggc taaaataacc attgacttat tagcaggata
     1561 tagtatataa taatttaaaa aacattcagg tccatattct tgtgaacaag gaaacaaagt
     1621 gtatcactac ctgttctgaa acttcaagtt tactagagac ttagcccgat ctagataggg
     1681 ctcttacagc acatttggga aggcagcata aaaaatggac tgtccctaaa taaatgtttg
     1741 gatttataat atttttcctt ttcctaaata actttatttg gaagatgaaa atgcttgatt
     1801 tcaagaaata aatgaaatgt cacatttcta agtagcacag gacaagctcc gtctttcact
     1861 tgcagtccca cagtgcggtc catcgctccc tgtgaacagc atgtgcctgt gcttgttgcc
     1921 ctcactacag ttctctgtgg ctgagaaagg gaagtccctg aaggaactgt ggttttatat
     1981 gtgcacttta aaatcctgac cccggggggc gtcactgtgc aattttatgt cccttgctca
     2041 cactaaggtt cccaagatgt tggccaggat cactagtaga taatttatat ctatttgggt
     2101 tttcagaatt ctttgtgagg acatttctcc attttgggtt aatctctaac ttgtaggcat
     2161 tcacttttgt aaaccgcaaa agtgccttac attcatactt acttcactaa catgctgagt
     2221 tggtgccaag tgccatagtg tgtgtgtgtg tgtgtgtgtg tgtgtgtgtg tgtgtgtgtg
     2281 tgtgtgtgca tgtgtgtagt acaaactgta tactgtgtat atgtgtgtgc acactcatgt
     2341 tctagttagt gtcttacaat tcagaagggt gaaaatagaa atataagtga agaactggca
     2401 acctggccat ggatgcagcc agcagcgctt aggggagaca cttctgtgtc ccctcctcag
     2461 ggttaatctc ttttttcctc accaacactg tgatggatgg atgtgcatgt tgataggaaa
     2521 accttttctt ggtttttttt ctcttcactt agcccttggt ggttacatgt actaagctat
     2581 ctaatctatt aatttaaaag gatacatact gtgggcttca ggaggccaca taccccagat
     2641 aaatagatga gacagttatt caacacttgg aacggacatt ttgaaacatt cagaaaccat
     2701 ttacgggaaa aacaagccct aatagtcctc cataagaact ggttccaaaa gaaacgcact
     2761 gcacggagta cttttgtgtt ctaagacttt cgtgagaaaa cattgcacta agattgtttg
     2821 acctcatgag taagagcgtt cctgttagat gtggtcagaa tggagatgtg cttctgtctc
     2881 atcacgccag acctgtgcac acacactaaa ctgtgaaaga caaagttaca agtataaaac
     2941 aaaaactatc atgatagaag caatccttaa tgcttttggg tctgtattgt atgccccaaa
     3001 ataatagtga aaattgttga aatatgtcag ttaatctgtt tgtaaaatat ttgatattta
     3061 tgtcaatggg actttttgtt aaatactaat atataagaat tttcatgttt tctgagaaaa
     3121 taaaaatata ttagtattaa aatattgtaa tgt
//
