Gene Symbol | CAPN3 |
Entrez Gene ID | 825 |
Full Name | calpain 3 |
Synonyms | CANP3,CANPL3,LGMD2,LGMD2A,nCL-1,p94 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Muscular dystrophy, limb-girdle, type 2A, 253600 (3) |