Health / Medical Topics |
CTSK wt Allele
Human CTSK wild-type allele is located in the vicinity of 1q21 and is approximately 12 kb in length. This allele, which encodes cathepsin K protein, plays a role in the regulation of both proteolysis and osteoclastic bone resorption. Mutation of the gene is associated with pycnodysostosis. (NCI Thesaurus)
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