CAPN3 Rabbit pAb

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. Synonyma: p94, CANP3, LGMD2, nCL-1, CANPL3, LGMD2A, LGMDD4, LGMDR1, CAPN3