D2HGDH
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Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). D-2-hydroxyglutarate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the D2HGDH gene.[1][2][3]
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.[3]
See also
[edit | edit source]- L2HGDH
- 2-hydroxyglutarate synthase
- 2-hydroxyglutarate dehydrogenase
- Hydroxyacid-oxoacid transhydrogenase
References
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Further reading
[edit | edit source]- Lua error in Module:Citation/CS1/Configuration at line 2172: attempt to index field '?' (a nil value).
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