Calpain-3

Template:Short description Template:Infobox gene Calpain-3 is a protein that in humans is encoded by the CAPN3 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 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 Titin.

External links

• The MEROPS online database for peptidases and their inhibitors: C02.004
• GeneReviews/NCBI/NIH/UW entry on Calpainopathy
• LOVD mutation database: CAPN3
• Template:UCSC gene info