CASP6
caspase 6
Summary
This gene encodes a member of the cysteine-aspartic acid protease (caspase) family of enzymes. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic acid residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein is processed by caspases 7, 8 and 10, and is thought to function as a downstream enzyme in the caspase activation cascade. Alternative splicing of this gene results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Oct 2015]
Known Variants13 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4698775 | 4:110,590,479 | G/T | upstream gene variant | not provided |
| rs140165515 | 4:110,605,702 | C/T | missense variant | — |
| rs759651181 | 4:110,610,566 | T/C | — | uncertain significance |
| rs5030594 | 4:110,611,198 | T/A | — | — |
| rs2545293154 | 4:110,612,026 | A/G | — | uncertain significance |
| rs972709324 | 4:110,612,060 | C/T | — | uncertain significance |
| rs750146259 | 4:110,612,155 | C/A | — | uncertain significance |
| rs1281439734 | 4:110,615,805 | C/G | — | uncertain significance |
| rs377499378 | 4:110,618,781 | C/T | — | uncertain significance |
| rs536956201 | 4:110,618,782 | G/A | — | uncertain significance |
| rs2545303246 | 4:110,618,836 | G/A | — | uncertain significance |
| rs1730289900 | 4:110,618,851 | C/G | — | uncertain significance |
| rs2301717 | 4:110,619,534 | T/G | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.