| Entrez Gene ID | 1519 |
|---|---|
| Official Gene Symbol | CTSO (GeneCards) |
| Full name | cathepsin O |
| Location | 4q32.1 |
| Other ids | Vega : OTTHUMG00000161942 MIM : 600550 HGNC : HGNC:2542 Ensembl : ENSG00000256043 |
| Other names | CTSO1 |
| Summary | The protein encoded by the gene is a cysteine proteinase and a member of the papain superfamily. This proteolytic enzyme is involved in cellular protein degradation and turnover. The recombinant form of this enzyme was shown to degrade synthetic peptides typically used as substrates for cysteine proteinases and its proteolytic activity was abolished by an inhibitor of cyteine proteinase. [provided by RefSeq, Jul 2008] |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 6423 | 1519 | CTSO | 4 | 157277890 | 157277890 | Asymptomatic | HiSeq X Ten |
| 7178 | 1519 | CTSO | 4 | 157307802 | 157307802 | Cockayne syndrome | HiSeq X Ten |
| 7367 | 1519 | CTSO | 4 | 157330869 | 157330869 | Xeroderma Pigmentosum | HiSeq X Ten |
| 7377 | 1519 | CTSO | 4 | 156872820 | 156872820 | Xeroderma Pigmentosum | HiSeq X Ten |
| 25395 | 1519 | CTSO | 4 | 156845886 | 156845886 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |