Function
Regulatory subunit of the calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. Essential for embryonic development.
Biological Context
Subcellular Location: Cytoplasm; Cell membrane
Disease Association: Pulmonary hypertension, primary, 6 (PPH6) : A form of primary pulmonary hypertension, a disease defined by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. Primary pulmonary hypertension exhibits incomplete penetrance, sex bias and variable age of onset, both within and between families. PPH6 is an autosomal recessive form. [The disease may be caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Calpain small subunit 1 (CAPNS1) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 1-268aa, with N-terminal 6xHis-SUMO-tagged tag, molecular weight 44.3kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
