Aliases for CTSK Gene
External Ids for CTSK Gene
Previous HGNC Symbols for CTSK Gene
Previous GeneCards Identifiers for CTSK Gene
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]
GeneCards Summary for CTSK Gene
CTSK (Cathepsin K) is a Protein Coding gene. Diseases associated with CTSK include pycnodysostosis and osteomyelitis. Among its related pathways are Class I MHC mediated antigen processing and presentation and Degradation of the extracellular matrix. GO annotations related to this gene include cysteine-type peptidase activity and cysteine-type endopeptidase activity. An important paralog of this gene is CTSW.
UniProtKB/Swiss-Prot for CTSK Gene
Closely involved in osteoclastic bone resorption and may participate partially in the disorder of bone remodeling. Displays potent endoprotease activity against fibrinogen at acid pH. May play an important role in extracellular matrix degradation
Cathepsins are a group of lysosomal proteases that have a key role in cellular protein turnover. The term cathepsin includes serine proteases (cathepsins A and G), aspartic proteases (cathepsin D and E) as well as the cysteine proteases (cathepsins B, C, F, H, K, L, O, S, W and Z). Most cathepsins are endopeptidases, with the exception of cathepsin C and Z. Cathepsins are synthesized as inactive proenzymes, glycosylated post-translationally, and directed towards the lysosomal compartment by cellular mannose-6-phosphate receptors. Their activity is regulated by several mechanisms including regulation of synthesis, zymogen processing, inhibition by endogenous inhibitors (e.g. stefins and cystatins for cysteine cathepsins) and pH. The main function of cathepsins is protein recycling within the lysosome but they are also known to be involved in a range of other physiological, as well as pathological processes, including maturation of the MHC class II complex, bone remodeling, keratinocyte differentiation, tumor progression and metastasis, rheumatoid arthritis, osteoarthritis and atherosclerosis.