D2HGDH

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D2HGDH
Identifiers
Aliases D2HGDH, D2HGD, D-2-hydroxyglutarate dehydrogenase
External IDs MGI: 2138209 HomoloGene: 5534 GeneCards: D2HGDH
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001287249
NM_152783

NM_178882
NM_001310767

RefSeq (protein)

NP_001274178
NP_689996

NP_849213.2
NP_001297696
NP_849213

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

D-2-hydroxyglutarate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the D2HGDH gene.[3][4][5]

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.[5]

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ a b "Entrez Gene: D2HGDH D-2-hydroxyglutarate dehydrogenase". 

Further reading[edit]