72829498314ENSG00000180902ENSMUSG00000073609Q8N465Q8CIM3NM_001287249NM_152783NM_001352824NM_178882NM_001310767NP_001274178NP_689996NP_001339753NP_001297696NP_849213D-2-hydroxyglutarate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the D2HGDH gene.

[5][6][7] This gene encodes D-2hydroxyglutarate dehydrogenase is 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.

This article on a gene on human chromosome 2 is a stub.