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LGMDR1

Chr 15AR

calpain 3

Also known as: CANP3, CANPL3, LGMD2, LGMD2A, LGMDD4, LGMDR1, nCL-1, p94

NCBI Gene: 825 OMIM: 253600

This gene encodes calpain-3, a muscle-specific calcium-activated cysteine protease that binds to titin and functions as a major intracellular protease in skeletal muscle. Mutations cause limb-girdle muscular dystrophy, autosomal recessive 1 (LGMDR1), which primarily affects the proximal muscles of the shoulders and hips. The condition follows autosomal recessive inheritance.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM

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]

GeneReviews OMIM ResearchGenerating clinical summary…