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- D2HGDH abstract "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.".
- D2HGDH entrezgene "728294".
- D2HGDH wikiPageID "14881865".
- D2HGDH wikiPageRevisionID "593938808".
- D2HGDH hasPhotoCollection D2HGDH.
- D2HGDH requireManualInspection "no".
- D2HGDH summaryText "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.".
- D2HGDH updateCitations "yes".
- D2HGDH updatePage "yes".
- D2HGDH updateProteinBox "yes".
- D2HGDH updateSummary "yes".
- D2HGDH type Biomolecule.
- D2HGDH type Protein.
- D2HGDH type BiologicalObject.
- D2HGDH comment "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.".
- D2HGDH label "D2HGDH".
- D2HGDH sameAs m.03h096c.
- D2HGDH sameAs Q5204049.
- D2HGDH sameAs Q5204049.
- D2HGDH wasDerivedFrom D2HGDH?oldid=593938808.
- D2HGDH isPrimaryTopicOf D2HGDH.