Background：Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed.
仕様
Synonyms：Calcium-activated neutral proteinase 3,calpain 3, （p94）,Calpain L3,Calpain large polypeptide L3 ,Calpain p94,calpain p94, large [catalytic] subunit,calpain, large polypeptide L3,Calpain-3,CAN3,CANP 3,CANP3,CANPL3,CAPN3,LGMD 2A,LGMD2,LGMD2A,Lp82,Lp85,MGC10767,MGC11121,MGC14344,MGC4403,Muscle-specific calcium-activated neutral protease 3,muscle-specific calcium-activated neutral protease 3 large subunit,nCL-1,New calpain 1,p94
