D2HGDH Antibody

1. D2HGDH-GAL3ST2 is more frequently seen in prostate cancer samples, and seems to be enriched in African Americans. PMID: 27322736
2. D2HGDH elevates alpha-KG levels via IDH2 expression modulation, influencing histone and DNA methylation, and HIF1alpha hydroxylation. D2HGDH mutants found in diffuse large B-cell lymphoma are enzymatically inert. PMID: 26178471
3. D2HGDH mutation is not associated with glioblastoma. PMID: 21625441
4. We did not find evidence for mutations in the genes D2HGDH and L2HGDH as an alternative mechanism for raised 2-hydroxyglutarate levels in brain tumours PMID: 20727073
5. Observational study of gene-disease association. (HuGE Navigator) PMID: 20727073
6. 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). PMID: 16037974
7. 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 PMID: 19283509

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HGNC: 28358

OMIM: 600721

KEGG: hsa:728294

STRING: 9606.ENSP00000315351

UniGene: Hs.516813