CAPN3
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Calpain-3 is a protein that in humans is encoded by the CAPN3 gene.[1][2]
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]
References
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External links
- The MEROPS online database for peptidases and their inhibitors: C02.004
- GeneReviews/NCBI/NIH/UW entry on Calpainopathy
- LOVD mutation database: CAPN3
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