CTSK, Official Symbol CTSKprovided by HGNC Official Full Name cathepsin Kprovided by HGNC Primary source HGNC:HGNC:2536 See related Ensembl:ENSG00000143387 MIM:601105; AllianceGenome:HGNC:2536 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CTSO; PKND; PYCD; CTS02; CTSO1; CTSO2 Summary 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] Expression Broad expression in gall bladder (RPKM 190.4), urinary bladder (RPKM 132.0) and 15 other tissues See more Orthologs mouse all