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D2HGDH encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. Additionally we are shipping D2HGDH Antibodies (14) and D2HGDH Kits (2) and many more products for this protein.
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D2HGDH elevates alpha-KG levels via IDH2 (show IDH2 Proteins) expression modulation, influencing histone and DNA methylation (show HELLS Proteins), and HIF1alpha (show HIF1A Proteins) hydroxylation. D2HGDH mutants found in diffuse large B-cell lymphoma are enzymatically inert.
D2HGDH mutation is not associated with glioblastoma.
We did not find evidence for mutations in the genes D2HGDH and L2HGDH (show L2HGDH Proteins) as an alternative mechanism for raised 2-hydroxyglutarate levels in brain tumours
Two novel pathogenic mutations in D-2-hydroxyglutarate dehydrogenase gene in patient with a mild presentation and asymptomatic siblings with D-2-hydroxyglutaric aciduria with a splice error (IVS4-2A-->G) and a missense mutation (c.1315A-->G;p.Asn439Asp).
This enzyme assay will have utility in differentiating patients with 2-hydroxyglutaric aciduria and in assessing the residual activities linked to pathogenic mutations in 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.
D-2-hydroxyglutarate dehydrogenase, mitochondrial