CAPN3( Human )

Entrez Gene 825 Entrez Gene 825
calpain 3

Alias

CANP3|CANPL3|LGMD2|LGMD2A|nCL-1|p94

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. [provided by RefSeq, Jul 2008].

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