DISEASES

Disease-gene associations mined from literature

Literature associating CAPN1 and autosomal recessive limb-girdle muscular dystrophy type 2A

CAPN1 [ENSP00000431984]

Calpain-1 catalytic subunit; Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction; Belongs to the peptidase C2 family.

Synonyms:  CAPN1,  CAPN1p,  hCAPN1,  E9PIA9,  E9PJA6 ...

Linkouts:  STRING  Pharos  UniProt