CAPN3

Calpain-3 is a is_associated_with::protein that in humans is encoded by the CAPN3 is_associated_with::gene.

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 is_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.

In melanocytic cells CAPN3 gene expression may be regulated by MITF.

Interactions
CAPN3 has been shown to interact with is_associated_with::Titin.