SDHA
Summary: This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:600857 Ensembl IDEnsembl:ENSG00000073578 HGNC IDHGNC:HGNC:10680 PHARMGKB IDPA35605 Map Location5p15.33 | |||||
Gene Categories:
CLINICALLY ACTIONABLEGO terms in SDHA
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0000104 | succinate dehydrogenase activity |
| MF | IMP | GO:0000104 | succinate dehydrogenase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0008177 | succinate dehydrogenase (ubiquinone) activity |
| MF | IMP | GO:0008177 | succinate dehydrogenase (ubiquinone) activity |
| MF | IBA | GO:0009055 | electron transfer activity |
Gene expression in normal tissue: SDHA
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SDHA
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1428517 | The citric acid (TCA) cycle and respiratory electron transport |
| reactome | R-HSA-1428517 | The citric acid (TCA) cycle and respiratory electron transport |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-163200 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
| reactome | R-HSA-611105 | Respiratory electron transport |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SDHA
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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