靶标:
CAPN3
产品别名:
CANP3; CANPL3; LGMD2; LGMD2A; LGMDD4; LGMDR1; nCL-1; p94; CAPN3; calpain 3; calpain 3; calpain-3; calpain p94, large [catalytic] subunit; calpain, large polypeptide L3; muscle-specific calcium-activated neutral protease 3 large subunit; new calpain 1; 钙蛋白酶3(CAPN3);
背景信息:
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. [provided by RefSeq, Jul 2008],