ATP5F1C
ATP synthase F1 subunit gamma
Summary
This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the gamma subunit of the catalytic core. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14. [provided by RefSeq, Jul 2008]
Known Variants13 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs371903595 | 10:7,830,205 | C/T | — | uncertain significance |
| rs1257360560 | 10:7,830,214 | T/C | — | uncertain significance |
| rs1244414 | 10:7,836,104 | C/T | intron variant | — |
| rs755191204 | 10:7,839,064 | A/G | — | uncertain significance |
| rs747924256 | 10:7,839,073 | C/T | — | uncertain significance |
| rs2491095301 | 10:7,839,094 | C/T | — | uncertain significance |
| rs146307767 | 10:7,840,983 | C/T | — | uncertain significance |
| rs760020061 | 10:7,841,077 | C/A | — | uncertain significance |
| rs139967528 | 10:7,841,811 | A/G | missense variant | — |
| rs775348836 | 10:7,844,240 | G/A | — | uncertain significance |
| rs370203995 | 10:7,844,311 | A/G | — | uncertain significance |
| rs773480550 | 10:7,844,386 | C/T | — | uncertain significance |
| rs200847831 | 10:7,844,756 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.