[1][2] 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.
[3] In melanocytic cells CAPN3 gene expression may be regulated by MITF.