D2HGDH, D-2-hydroxyglutarate dehydrogenase

D2HGDH, D-2-hydroxyglutarate dehydrogenase

• 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]

• Gene Synonyms (D2HGD, D-2-hydroxyglutarate dehydrogenase, mitochondrial,)
• NCBI Gene ID: 728294
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q8N465
  UNIPROT ID#>>B3KSR6
  UNIPROT ID#>>B5MCV2
  UNIPROT ID#>>B4E3K7
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

D-2-hydroxyglutarate dehydrogenase interacts with:

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