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MT001686

UniProt Annotations

Entry Information

Gene Name	D-2-hydroxyglutarate dehydrogenase
Protein Entry	D2HDH_HUMAN
UniProt ID	Q8N465
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8N465-1; Sequence=Displayed; Name=2; IsoId=Q8N465-2; Sequence=VSP_017876, VSP_017877, VSP_017878; Note=No experimental confirmation available.; Name=3; IsoId=Q8N465-3; Sequence=VSP_054389, VSP_054390; Note=No experimental confirmation available.;
Catalytic Activity	(R)-2-hydroxyglutarate + acceptor = 2- oxoglutarate + reduced acceptor.
Cofactor	Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence={ECO:0000305};
Disease	D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721]: A rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine. {ECO:0000269\|PubMed:15609246, ECO:0000269\|PubMed:16037974, ECO:0000269\|PubMed:16081310}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme Regulation	Activated by zinc and cobalt. {ECO:0000269\|PubMed:15070399}.
Function	Catalyzes the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate. {ECO:0000269\|PubMed:15070399}.
Interaction	P57735:RAB25; NbExp=1; IntAct=EBI-1053783, EBI-1050500;
Sequence Caution	Sequence=AAX82020.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Similarity	Belongs to the FAD-binding oxidoreductase/transferase type 4 family. {ECO:0000305}.
Similarity	Contains 1 FAD-binding PCMH-type domain. {ECO:0000255\|PROSITE-ProRule:PRU00718}.
Subcellular Location	Mitochondrion {ECO:0000305\|PubMed:15070399}.