| Tbio | D-2-hydroxyglutarate dehydrogenase, mitochondrial |
Catalyzes the oxidation of D-2-hydroxyglutarate to alpha-ketoglutarate.
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. [provided by RefSeq, Jul 2008]
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. [provided by RefSeq, Jul 2008]
Comments
| Disease | log2 FC | p |
|---|---|---|
| osteosarcoma | -1.097 | 0.002 |
| medulloblastoma, large-cell | -1.100 | 0.000 |
| intraductal papillary-mucinous adenoma (... | 1.100 | 0.018 |
| ovarian cancer | -1.500 | 0.000 |
| Breast cancer | -1.100 | 0.000 |
| PMID | Text |
|---|---|
| 26178471 | 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. |
| 21625441 | D2HGDH mutation is not associated with glioblastoma. |
| 20727073 | 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 |
| 20727073 | Observational study of gene-disease association. (HuGE Navigator) |
| 19283509 | 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 |
| 16037974 | 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). |
MLPRRPLAWPAWLLRGAPGAAGSWGRPVGPLARRGCCSAPGTPEVPLTRERYPVRRLPFSTVSKQDLAAF 1 - 70 ERIVPGGVVTDPEALQAPNVDWLRTLRGCSKVLLRPRTSEEVSHILRHCHERNLAVNPQGGNTGMVGGSV 71 - 140 PVFDEIILSTARMNRVLSFHSVSGILVCQAGCVLEELSRYVEERDFIMPLDLGAKGSCHIGGNVATNAGG 141 - 210 LRFLRYGSLHGTVLGLEVVLADGTVLDCLTSLRKDNTGYDLKQLFIGSEGTLGIITTVSILCPPKPRAVN 211 - 280 VAFLGCPGFAEVLQTFSTCKGMLGEILSAFEFMDAVCMQLVGRHLHLASPVQESPFYVLIETSGSNAGHD 281 - 350 AEKLGHFLEHALGSGLVTDGTMATDQRKVKMLWALRERITEALSRDGYVYKYDLSLPVERLYDIVTDLRA 351 - 420 RLGPHAKHVVGYGHLGDGNLHLNVTAEAFSPSLLAALEPHVYEWTAGQQGSVSAEHGVGFRKRDVLGYSK 421 - 490 PPGALQLMQQLKALLDPKGILNPYKTLPSQA 491 - 521 //
| PMID | Year | Title |
|---|---|---|
| 26178471 | 2015 | D2HGDH regulates alpha-ketoglutarate levels and dioxygenase function by modulating IDH2. |
| 21625441 | 2011 | Screen for IDH1, IDH2, IDH3, D2HGDH and L2HGDH mutations in glioblastoma. |
| 20727073 | 2011 | Mutational analysis of D2HGDH and L2HGDH in brain tumours without IDH1 or IDH2 mutations. |
| 19283509 | 2009 | Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients. |
| 17353931 | 2007 | Large-scale mapping of human protein-protein interactions by mass spectrometry. |
| 16442322 | 2006 | D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon? |
| 16344560 | 2006 | Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |
| 16081310 | Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins. | |
| 16037974 | 2005 | Mutations in phenotypically mild D-2-hydroxyglutaric aciduria. |
| 15815621 | 2005 | Generation and annotation of the DNA sequences of human chromosomes 2 and 4. |
| More... |
