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 Endosteal Hyperostosis, Autosomal Dominant. Among its related pathways are RANK Signaling in Osteoclasts and Innate Immune System. Gene Ontology (GO) annotations related to this gene include cysteine-type endopeptidase activity and collagen binding. An important paralog of this gene is CTSS.
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).