DISEASES

Disease-gene associations mined from literature

Literature associating CAPNS2 and Coffin-Siris syndrome 1

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 ...

Linkouts:  STRING  Pharos  UniProt