ATP6V0B
ATPase H+ transporting V0 subunit b
Summary
This gene encodes a portion of the V0 domain of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Activity of this enzyme is necessary for such varied processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Known Variants7 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2085501654 | 1:44,440,738 | C/G | — | uncertain significance |
| rs2286241 | 1:44,440,769 | G/C | synonymous variant | — |
| rs753681254 | 1:44,441,832 | G/T | — | uncertain significance |
| rs905037694 | 1:44,442,273 | G/C | — | uncertain significance |
| rs377754670 | 1:44,442,482 | G/A | — | uncertain significance |
| rs754010438 | 1:44,442,864 | T/G | — | uncertain significance |
| rs755827844 | 1:44,443,014 | T/G | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.