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 ...