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Synonyms
Positive Control
Known Applications & Suggested Dilutions
Immunogen
Cellular Localization
Species Reactivity
Host / Ig Isotype
Mol. Weight of Antigen
Specificity & Comments
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.
Key References