CTSH
cathepsin H
Summary
The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant progression of prostate tumors. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs538240876 | 15:79,213,063 | T/G | — | — |
| rs11558397 | 15:79,214,531 | G/A | — | likely benign |
| rs767948496 | 15:79,214,534 | C/T | — | uncertain significance |
| rs2289691 | 15:79,215,238 | T/C | intron variant | — |
| rs750371155 | 15:79,215,338 | T/A | — | uncertain significance |
| rs748272807 | 15:79,215,367 | T/G | — | uncertain significance |
| rs2289694 | 15:79,217,606 | G/A | intron variant | — |
| rs2505190298 | 15:79,217,697 | T/C | — | uncertain significance |
| rs138844057 | 15:79,217,704 | T/C | — | uncertain significance |
| rs148219875 | 15:79,220,054 | C/T | — | likely benign |
| rs375601338 | 15:79,220,113 | C/A | — | uncertain significance |
| rs146836161 | 15:79,223,833 | C/T | — | uncertain significance |
| rs2289700 | 15:79,224,683 | C/G | — | — |
| rs758377577 | 15:79,224,731 | C/T | — | uncertain significance |
| rs143214964 | 15:79,224,743 | C/T | — | uncertain significance |
| rs145029663 | 15:79,227,417 | G/A | — | uncertain significance |
| rs771026987 | 15:79,228,026 | G/A | — | uncertain significance |
| rs200940432 | 15:79,228,072 | C/G | — | uncertain significance |
| rs138419720 | 15:79,229,679 | A/G | — | benign |
| rs1438048250 | 15:79,229,680 | T/C | — | uncertain significance |
| rs752664784 | 15:79,229,683 | T/C | — | uncertain significance |
| rs144057694 | 15:79,229,691 | G/A | — | likely benign |
| rs544340367 | 15:79,229,700 | C/T | — | likely benign |
| rs9806439 | 15:79,229,745 | C/T | — | benign |
| rs10152868 | 15:79,230,969 | A/G | intron variant | — |
| rs78813423 | 15:79,231,005 | T/C | regulatory region variant | — |
| rs62013227 | 15:79,231,046 | G/T | regulatory region variant | — |
| rs34593439 | 15:79,234,957 | G/A | intron variant | — |
| rs3825932 | 15:79,235,446 | T/C | regulatory region variant | — |
| rs188470134 | 15:79,236,217 | G/C | intron variant | — |
| rs1036937 | 15:79,237,180 | C/A | regulatory region variant | — |
| rs35001431 | 15:79,237,257 | C/T | — | benign |
| rs1596295893 | 15:79,237,261 | A/C | — | likely benign |
| rs545051698 | 15:79,237,291 | C/T | — | benign |
| rs1567387003 | 15:79,237,295 | G/A | — | uncertain significance |
| rs1378369940 | 15:79,237,304 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.