Calpain-3
Protein found in humans
From Wikipedia, the free encyclopedia
Calpain-3 is a protein that in humans is encoded by the CAPN3 gene.[5][6]
Function
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.[7]
In melanocytic cells CAPN3 gene expression may be regulated by MITF.[8]