Literature associating CAPNS2 and autosomal dominant intellectual developmental disorder
CAPNS2 [ENSP00000400882]
Calpain small subunit 2; Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. This small subunit may act as a tissue-specific chaperone of the large subunit, possibly by helping it fold into its correct conformation for activity.
Synonyms: CAPNS2, CAPNS2p, hCAPNS2, Q96L46, Q96L46p ...