D2HGDH Antibody – Rabbit Polyclonal

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: an oxidoreductase that act on the CH-OH group of donor with other acceptors. Catalyzes the oxidation of D-2-hydroxyglutarate (2HG) to alpha-ketoglutarate. Belongs to the FAD-binding oxidoreductase/transferase type 4 family. 2 human isoforms produced by alternative splicing. Defects in D2HGDH are the cause of D-2-hydroxyglutaric aciduria (D2HGA), 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.

Protein type: EC 1.1.99.-; Mitochondrial; Oxidoreductase

Chromosomal Location of Human Ortholog: 2q37.3

Cellular Component: mitochondrial matrix; mitochondrion

Molecular Function: (R)-2-hydroxyglutarate dehydrogenase activity; FAD binding

Biological Process: 2-oxoglutarate metabolic process; cellular metabolic process; cellular protein metabolic process; response to calcium ion; response to cobalt ion; response to magnesium ion; response to manganese ion; response to zinc ion

Disease: D-2-hydroxyglutaric Aciduria 1