Rahul Sharma (Editor)

D2HGDH

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Species
  
Entrez
  
728294

Human
  
Ensembl
  
ENSG00000180902


Aliases
  
External IDs
  
MGI: 2138209 HomoloGene: 5534 GeneCards: D2HGDH

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

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.

References

D2HGDH Wikipedia


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