Calpain-3

Calpain-3 is a protein that in humans is encoded by the CAPN3 gene.^[1][2]

Calpain-3
Identifiers
Aliases
External IDs	GeneCards: ; OMA:- orthologs
Orthologs Species Human Mouse Entrez n/a n/a Ensembl n/a n/a UniProt n a n/a RefSeq (mRNA) n/a n/a RefSeq (protein) n/a n/a Location (UCSC) n/a n/a PubMed search n/a n/a
Wikidata
View/Edit Human

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.^[3]

In melanocytic cells CAPN3 gene expression may be regulated by MITF.^[4]

Interactions

CAPN3 has been shown to interact with Titin.^[5][6]