| Tbio | Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial |
Succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of either ATP or GTP and thus represents the only step of substrate-level phosphorylation in the TCA. The alpha subunit of the enzyme binds the substrates coenzyme A and phosphate, while succinate binding and specificity for either ATP or GTP is provided by different beta subunits.
This gene encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to succinate and ATP or GTP. Mutations in this gene are the cause of the metabolic disorder fatal infantile lactic acidosis and mitochondrial DNA depletion. [provided by RefSeq, Feb 2010]
This gene encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to succinate and ATP or GTP. Mutations in this gene are the cause of the metabolic disorder fatal infantile lactic acidosis and mitochondrial DNA depletion. [provided by RefSeq, Feb 2010]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Disease Progression | 136 | 0.0 | 0.0 |
| MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) | 1 | 0.0 | 0.0 |
| Stomach Neoplasms | 300 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| ulcerative colitis | 1819 | 1.6e-06 |
| ovarian cancer | 8520 | 7.1e-05 |
| osteosarcoma | 7950 | 3.7e-04 |
| Multiple myeloma | 1332 | 2.3e-03 |
| pancreatic ductal adenocarcinoma liver metastasis | 1962 | 1.2e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| substance-related disorder | 162 | 0.0 | 0.8 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Leigh disease | 100 | 3.631 | 1.8 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Methylmalonic acidemia | 37 | 5.221 | 2.6 |
| Lactic acidosis | 51 | 4.017 | 2.0 |
| Mitochondrial myopathy | 26 | 3.706 | 1.9 |
| Pearson syndrome | 19 | 3.272 | 1.6 |
| Vasomotor rhinitis | 12 | 3.016 | 1.5 |
| Disease | log2 FC | p |
|---|---|---|
| Multiple myeloma | 1.054 | 2.3e-03 |
| osteosarcoma | 1.252 | 3.7e-04 |
| ovarian cancer | -1.300 | 7.1e-05 |
| pancreatic ductal adenocarcinoma liver m... | -1.186 | 1.2e-02 |
| ulcerative colitis | -1.100 | 1.6e-06 |
MTATLAAAADIATMVSGSSGLAAARLLSRSFLLPQNGIRHCSYTASRQHLYVDKNTKIICQGFTGKQGTF 1 - 70 HSQQALEYGTKLVGGTTPGKGGQTHLGLPVFNTVKEAKEQTGATASVIYVPPPFAAAAINEAIEAEIPLV 71 - 140 VCITEGIPQQDMVRVKHKLLRQEKTRLIGPNCPGVINPGECKIGIMPGHIHKKGRIGIVSRSGTLTYEAV 141 - 210 HQTTQVGLGQSLCVGIGGDPFNGTDFIDCLEIFLNDSATEGIILIGEIGGNAEENAAEFLKQHNSGPNSK 211 - 280 PVVSFIAGLTAPPGRRMGHAGAIIAGGKGGAKEKISALQSAGVVVSMSPAQLGTTIYKEFEKRKML 281 - 346 //
