D2HGDH

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. [provided by RefSeq, Jul 2008]D2HGDH (D-2-Hydroxyglutarate Dehydrogenase) is a Protein Coding gene. Diseases associated with D2HGDH include D-2-Hydroxyglutaric Aciduria 1 and 2-Hydroxyglutaric Aciduria. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Pyruvate metabolism and Citric Acid (TCA) cycle. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on CH-OH group of donors.Catalyzes the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate.

Full Name

D-2-Hydroxyglutarate Dehydrogenase

Function

Catalyzes the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate.

Biological Process

2-oxoglutarate metabolic process Source: Reactome
Cellular protein metabolic process Source: HGNC-UCL
Response to cobalt ion Source: HGNC-UCL
Response to manganese ion Source: HGNC-UCL
Response to zinc ion Source: HGNC-UCL

Cellular Location

Mitochondrion

Involvement in disease

D-2-hydroxyglutaric aciduria 1 (D2HGA1):
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.