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D2HGDH is 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.
Gene Name: | D-2-hydroxyglutarate dehydrogenase |
Synonyms: | D2HGDH, D2HGD |
Target Sequences: | Q8N465 Q8N465 |
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