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D2HGDH encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. Zusätzlich bieten wir Ihnen D2HGDH Antikörper (24) und D2HGDH Kits (7) und viele weitere Produktgruppen zu diesem Protein an.
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D2HGDH-GAL3ST2 (zeige GAL3ST2 Proteine) is more frequently seen in prostate cancer samples, and seems to be enriched in African Americans.
D2HGDH elevates alpha-KG levels via IDH2 (zeige IDH2 Proteine) expression modulation, influencing histone and DNA methylation (zeige HELLS Proteine), and HIF1alpha (zeige HIF1A Proteine) 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 (zeige L2HGDH Proteine) 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