ATP5F1B
ATP synthase F1 subunit beta
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 beta subunit of the catalytic core. [provided by RefSeq, Jul 2008]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs369535102 | 12:57,032,117 | T/C | — | uncertain significance |
| rs147799513 | 12:57,032,122 | T/A | — | uncertain significance |
| rs781187712 | 12:57,032,162 | G/T | — | uncertain significance |
| rs145015204 | 12:57,032,900 | C/A | — | uncertain significance |
| rs374052119 | 12:57,032,999 | T/C | — | uncertain significance |
| rs888471798 | 12:57,033,035 | C/A | — | uncertain significance |
| rs2950388 | 12:57,033,353 | C/T | upstream gene variant | — |
| rs12229457 | 12:57,033,680 | T/A | upstream gene variant | — |
| rs372401715 | 12:57,033,973 | T/C | — | uncertain significance |
| rs9634247 | 12:57,034,840 | T/A | upstream gene variant | — |
| rs2950393 | 12:57,036,023 | G/A | regulatory region variant | — |
| rs2547807758 | 12:57,036,312 | A/G | — | pathogenic |
| rs138308594 | 12:57,037,227 | A/G | — | uncertain significance |
| rs778645597 | 12:57,037,734 | G/C | — | uncertain significance |
| rs762087122 | 12:57,038,656 | T/C | — | uncertain significance |
| rs2547808666 | 12:57,038,736 | T/A | — | uncertain significance |
| rs2547808824 | 12:57,039,023 | G/A | — | uncertain significance |
| rs114920447 | 12:57,039,038 | T/A | — | uncertain significance |
| rs981856729 | 12:57,039,090 | C/T | — | uncertain significance |
| rs376765679 | 12:57,039,113 | G/A | — | uncertain significance |
| rs781300850 | 12:57,039,128 | T/C | — | uncertain significance |
| rs757773553 | 12:57,039,639 | G/C | — | uncertain significance |
| rs755145018 | 12:57,039,665 | G/A | — | uncertain significance |
| rs144845797 | 12:57,039,675 | A/G | — | likely benign |
| rs1294239939 | 12:57,039,689 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.