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CTSK / Cathepsin K 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.
Gene Name: | cathepsin K |
Family/Subfamily: | Protease , Cysteine C1 |
Synonyms: | CTSK, Cathepsin K, Cathepsin K (pycnodysostosis), Cathepsin O1, Cathepsin O2, Cathepsin X, CTSO2, PKND, Procathepsin K, PYCD, Cathepsin O, CTS02, CTSO1 |
Target Sequences: | NM_000396 NP_000387.1 P43235 |
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