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CAPN3 calpain 3

Also known as: p94; CANP3; LGMD2; nCL-1; CANPL3; LGMD2A

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]

Associated conditions

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DescriptionTests
Limb-girdle muscular dystrophy, type 2A
MedGen: C1869123OMIM: 253600GeneReviews: Not available
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Genomic context

Location:
15q15.1
Sequence:
Chromosome: 15; NC_000015.10 (42359500..42412317)
Total number of exons:
26

Links

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