VDAC3
voltage dependent anion channel 3
Summary
This gene encodes a voltage-dependent anion channel (VDAC), and belongs to the mitochondrial porin family. VDACs are small, integral membrane proteins that traverse the outer mitochondrial membrane and conduct ATP and other small metabolites. They are known to bind several kinases of intermediary metabolism, thought to be involved in translocation of adenine nucleotides, and are hypothesized to form part of the mitochondrial permeability transition pore, which results in the release of cytochrome c at the onset of apoptotic cell death. Alternatively transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
Known Variants9 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs750040221 | 8:42,252,640 | T/G | — | uncertain significance |
| rs1161054742 | 8:42,256,258 | C/T | — | uncertain significance |
| rs62508038 | 8:42,256,264 | C/G | — | uncertain significance |
| rs2486859762 | 8:42,256,344 | G/T | — | uncertain significance |
| rs897717214 | 8:42,259,401 | G/C | — | uncertain significance |
| rs775234791 | 8:42,259,421 | G/A | — | uncertain significance |
| rs2486881228 | 8:42,260,876 | A/G | — | uncertain significance |
| rs764325542 | 8:42,260,911 | G/A | — | uncertain significance |
| rs751469875 | 8:42,260,930 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.