CTSZ
cathepsin Z
Summary
The protein encoded by this gene is a lysosomal cysteine proteinase and member of the peptidase C1 family. It exhibits both carboxy-monopeptidase and carboxy-dipeptidase activities. The encoded protein has also been known as cathepsin X and cathepsin P. This gene is expressed ubiquitously in cancer cell lines and primary tumors and, like other members of this family, may be involved in tumorigenesis. [provided by RefSeq, Oct 2008]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs13720 | 20:57,570,568 | G/A | downstream gene variant | — |
| rs34069356 | 20:57,570,760 | C/T | missense variant | — |
| rs202209335 | 20:57,570,790 | C/T | — | uncertain significance |
| rs750540427 | 20:57,570,811 | C/T | — | uncertain significance |
| rs771236223 | 20:57,571,704 | C/T | — | uncertain significance |
| rs2091862456 | 20:57,571,789 | T/C | — | uncertain significance |
| rs2515900161 | 20:57,571,793 | C/G | — | likely benign |
| rs62639970 | 20:57,571,818 | G/C | — | benign |
| rs199825459 | 20:57,572,709 | A/G | — | likely benign |
| rs112310043 | 20:57,572,725 | C/T | — | benign |
| rs11540881 | 20:57,572,729 | C/T | — | likely benign |
| rs750885462 | 20:57,572,808 | T/A | — | uncertain significance |
| rs6070690 | 20:57,574,816 | G/C | downstream gene variant | — |
| rs571971615 | 20:57,578,742 | A/G | — | — |
| rs1195875848 | 20:57,581,505 | G/A | — | uncertain significance |
| rs1455674057 | 20:57,582,063 | C/T | — | uncertain significance |
| rs986516676 | 20:57,582,101 | C/A | — | uncertain significance |
| rs1163152035 | 20:57,582,114 | C/T | — | uncertain significance |
| rs1277636410 | 20:57,582,119 | T/C | — | likely benign |
| rs920195081 | 20:57,582,131 | G/A | — | uncertain significance |
| rs1225063145 | 20:57,582,132 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.