D2HGDH

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D2HGDH
Identifiers
AliasesD2HGDH, D2HGD, D-2-hydroxyglutarate dehydrogenase
External IDsMGI: 2138209 HomoloGene: 5534 GeneCards: D2HGDH
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for D2HGDH
Genomic location for D2HGDH
Band2q37.3Start241,734,579 bp[1]
End241,768,816 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001287249
NM_152783
NM_001352824

NM_178882
NM_001310767

RefSeq (protein)

NP_001274178
NP_689996
NP_001339753

NP_001297696
NP_849213

Location (UCSC)Chr 2: 241.73 – 241.77 MbChr 1: 93.82 – 93.85 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

D-2-hydroxyglutarate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the D2HGDH gene.[5][6][7]

This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features.[7]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000180902 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000073609 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Achouri Y, Noel G, Vertommen D, Rider MH, Veiga-Da-Cunha M, Van Schaftingen E (Jun 2004). "Identification of a dehydrogenase acting on D-2-hydroxyglutarate". Biochem J. 381 (Pt 1): 35–42. doi:10.1042/BJ20031933. PMC 1133759Freely accessible. PMID 15070399. 
  6. ^ Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C (Jan 2005). "Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria". Am J Hum Genet. 76 (2): 358–60. doi:10.1086/427890. PMC 1196381Freely accessible. PMID 15609246. 
  7. ^ a b "Entrez Gene: D2HGDH D-2-hydroxyglutarate dehydrogenase". 

Further reading[edit]