| 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 | Target Count | Z-score | Confidence |
|---|---|---|---|
| 2-Hydroxyglutaricaciduria | 4 | 0.0 | 0.0 |
| Amino Acid Metabolism, Inborn Errors | 13 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Combined D-2- and L-2-hydroxyglutaric aciduria | 4 |
| Disease | Target Count | P-value |
|---|---|---|
| ovarian cancer | 8520 | 4.2e-06 |
| Breast cancer | 3578 | 7.7e-05 |
| medulloblastoma, large-cell | 6241 | 4.2e-04 |
| osteosarcoma | 7950 | 1.5e-03 |
| intraductal papillary-mucinous adenoma (IPMA) | 2955 | 1.8e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| 2-hydroxyglutaric aciduria | 4 | 0.0 | 5.0 |
| Disease | Target Count |
|---|---|
| D-2-hydroxyglutaric aciduria | 9 |
| D-2-HYDROXYGLUTARIC ACIDURIA 1 | 2 |
| Disease | log2 FC | p |
|---|---|---|
| Breast cancer | -1.100 | 7.7e-05 |
| intraductal papillary-mucinous adenoma (... | 1.100 | 1.8e-02 |
| medulloblastoma, large-cell | -1.100 | 4.2e-04 |
| osteosarcoma | -1.097 | 1.5e-03 |
| ovarian cancer | -1.500 | 4.2e-06 |
MLPRRPLAWPAWLLRGAPGAAGSWGRPVGPLARRGCCSAPGTPEVPLTRERYPVRRLPFSTVSKQDLAAF 1 - 70 ERIVPGGVVTDPEALQAPNVDWLRTLRGCSKVLLRPRTSEEVSHILRHCHERNLAVNPQGGNTGMVGGSV 71 - 140 PVFDEIILSTARMNRVLSFHSVSGILVCQAGCVLEELSRYVEERDFIMPLDLGAKGSCHIGGNVATNAGG 141 - 210 LRFLRYGSLHGTVLGLEVVLADGTVLDCLTSLRKDNTGYDLKQLFIGSEGTLGIITTVSILCPPKPRAVN 211 - 280 VAFLGCPGFAEVLQTFSTCKGMLGEILSAFEFMDAVCMQLVGRHLHLASPVQESPFYVLIETSGSNAGHD 281 - 350 AEKLGHFLEHALGSGLVTDGTMATDQRKVKMLWALRERITEALSRDGYVYKYDLSLPVERLYDIVTDLRA 351 - 420 RLGPHAKHVVGYGHLGDGNLHLNVTAEAFSPSLLAALEPHVYEWTAGQQGSVSAEHGVGFRKRDVLGYSK 421 - 490 PPGALQLMQQLKALLDPKGILNPYKTLPSQA 491 - 521 //
