Recombinant Human D-2-hydroxyglutarate dehydrogenase, mitochondrial (D2HGDH)

Uniprot Id

Q8N465

Target Species

Human

Target Name

D2HGDH

Target Full Name

D-2-hydroxyglutarate dehydrogenase, mitochondrial

Target Function

Catalyzes the oxidation of D-2-hydroxyglutarate (D-2-HG) to alpha-ketoglutarate. Also catalyzes the oxidation of other D-2-hydroxyacids, such as D-malate (D-MAL) and D-lactate (D-LAC). Exhibits high activities towards D-2-HG and D-MAL but a very weak activity towards D-LAC.

Target Involvement

D-2-hydroxyglutaric aciduria 1 (D2HGA1)

Target Subcellular Location

Mitochondrion.

Target Protein Families

FAD-binding oxidoreductase/transferase type 4 family

Target Research Area

Metabolism

Target Synonyms

D2HGDH; D2HGDD-2-hydroxyglutarate dehydrogenase; mitochondrial; EC 1.1.99.-

Target Background

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.