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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.
Gene Name: | calpain 3, (p94) |
Family/Subfamily: | Protease , Cysteine C2 |
Synonyms: | CAPN3, Calpain 3, Calpain p94, Calpain, large polypeptide L3, Calpain-3, Calpain 3, (p94), Calpain L3, CANPL3, CANP 3, CANP3, LGMD2, LGMD2A, NCL-1, p94, NCL1, New calpain 1 |
Target Sequences: | NM_000070 NP_000061.1 P20807 |
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