• Source: D2HGDH

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




See also


L2HGDH
2-hydroxyglutarate synthase
2-hydroxyglutarate dehydrogenase
Hydroxyacid-oxoacid transhydrogenase




References






Further reading

Kata Kunci Pencarian:

• Daftar gen penyandi protein pada manusia/1
• D2HGDH
• List of human protein-coding genes 1
• Citric acid cycle
• D-2-hydroxyglutarate dehydrogenase
• 2-Hydroxyglutaric aciduria
• Α-Hydroxyglutaric acid
• L2HGDH
• L-2-hydroxyglutarate dehydrogenase
• List of OMIM disorder codes
• 2-hydroxyglutarate synthase