CAPN3 Antibody Blocking Peptide

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.