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capn3

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Official Full Name
calpain 3, (p94)
Background
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]
Synonyms
CAPN3; calpain 3, (p94); p94; CANP3; LGMD2; nCL-1; CANPL3; LGMD2A; calpain-3; calpain L3; new calpain 1; calpain, large polypeptide L3; calcium-activated neutral proteinase 3; calpain p94, large [catalytic] subunit; muscle-specific calcium-activated neutral protease 3 large subunit; LGMD2, LGMD2A; nCL 1; MGC4403; MGC10767; MGC11121; MGC14344; CANP 3; calpain p94; muscle-specific calcium-activated neutral protease 3

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