MyBioSource.com's Rabbit Anti-Cathepsin K Antibody is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: Western Blot. The Rabbit Anti-Cathepsin K Antibody was generated using Cathepsin K, and CTSK as the antigen and it reacts with Human.
Description
Pycnodysostosis is an autosomal recessive skeletal dysplasia caused by pathogenic variants in the cathepsin K (CTSK) gene. Cathepsin K (CTSK) is an important protease responsible for degrading type I collagen, osteopontin, and other bone matrix proteins. The mutations in the CTSK gene can cause pycnodysostosis (OMIM 265800), a rare autosomal recessive bone dysplasia. Deficiency of cathepsin K (CTSK), a lysosomal cysteine protease, has been shown earlier as a cause of an autosomal recessive osteosclerotic skeletal dysplasia pycnodysostosis