CTSK Chromosome 1
Cathepsin K
Upload your DNA to see your personal genotypes for variants in CTSK.
What This Gene Does
The protein encoded by this gene is a lysosomal cysteine proteinase involved in bone remodeling and resorption. This protein, which is a member of the peptidase C1 protein family, is predominantly expressed in osteoclasts. However, the encoded protein is also expressed in a significant fraction of human breast cancers, where it could contribute to tumor invasiveness. Mutations in this gene are the cause of pycnodysostosis, an autosomal recessive disease characterized by osteosclerosis and short stature. [provided by RefSeq, Apr 2013]
Gene Info
Gene Group
"Cathepsins|Elastases"
Locus Type
gene with protein product
Location
1q21.3
Ensembl
ENSG00000143387
Associated Conditions (6)
Inborn genetic diseases
Pyknodysostosis
Chronic lymphocytic leukemia/small lymphocytic lymphoma
8 conditions
15 conditions
Abnormality of the skeletal system
Key Variants
RS1245231987
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138360770
Conflicting classifications of pathogenicity
Pyknodysostosis, Pyknodysostosis
Health Risk
RS142097792
Conflicting classifications of pathogenicity
Pyknodysostosis, Pyknodysostosis
Health Risk
RS200870056
Conflicting classifications of pathogenicity
Pyknodysostosis, Pyknodysostosis
Health Risk
RS201086925
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201446793
Conflicting classifications of pathogenicity
Pyknodysostosis, Chronic lymphocytic leukemia/small lymphocytic lymphoma, Inborn genetic diseases
Health Risk
RS2101951545
Conflicting classifications of pathogenicity
Pyknodysostosis, Pyknodysostosis
Health Risk
RS750609110
Conflicting classifications of pathogenicity
Health Risk
RS868112062
Conflicting classifications of pathogenicity
Health Risk
RS1057516627
Likely pathogenic
Pyknodysostosis, Pyknodysostosis
Health Risk
RS1057516725
Likely pathogenic
Pyknodysostosis, Pyknodysostosis
Health Risk
RS1057516839
Likely pathogenic
Pyknodysostosis, Pyknodysostosis
Health Risk
All Variants (118)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057516587 | Health Risk | Pathogenic/Likely pathogenic | Pyknodysostosis, Pyknodysostosis |
| RS1225660627 | Health Risk | Pathogenic/Likely pathogenic | Pyknodysostosis, Pyknodysostosis |
| RS1237746431 | Health Risk | Pathogenic/Likely pathogenic | Pyknodysostosis, Pyknodysostosis |
| RS1553196900 | Health Risk | Pathogenic/Likely pathogenic | Pyknodysostosis, Pyknodysostosis |
| RS1653935181 | Health Risk | Pathogenic/Likely pathogenic | Pyknodysostosis, Pyknodysostosis |
| RS1654085401 | Health Risk | Pathogenic/Likely pathogenic | Pyknodysostosis, Pyknodysostosis |
| RS202040269 | Health Risk | Pathogenic/Likely pathogenic | Pyknodysostosis, Pyknodysostosis |
| RS2101951671 | Health Risk | Pathogenic/Likely pathogenic | Pyknodysostosis, Pyknodysostosis |
| RS29001685 | Health Risk | Pathogenic/Likely pathogenic | Pyknodysostosis, Pyknodysostosis |
| RS371277428 | Health Risk | Pathogenic/Likely pathogenic | Pyknodysostosis, Pyknodysostosis |
| RS587663163 | Health Risk | Pathogenic/Likely pathogenic | Pyknodysostosis, Pyknodysostosis |
| RS74315303 | Health Risk | Pathogenic/Likely pathogenic | Pyknodysostosis, Pyknodysostosis |
| RS758450569 | Health Risk | Pathogenic/Likely pathogenic | Pyknodysostosis, Pyknodysostosis |
| RS759107967 | Health Risk | Pathogenic/Likely pathogenic | Pyknodysostosis, Pyknodysostosis |
| RS760640027 | Health Risk | Pathogenic/Likely pathogenic | Pyknodysostosis, Pyknodysostosis |
| RS762780994 | Health Risk | Pathogenic/Likely pathogenic | Abnormality of the skeletal system, Pyknodysostosis, Abnormality of the skeletal system |
| RS778368118 | Health Risk | Pathogenic/Likely pathogenic | Pyknodysostosis, Pyknodysostosis, Pyknodysostosis |
| RS780202604 | Health Risk | Pathogenic/Likely pathogenic | Pyknodysostosis, Pyknodysostosis |