Gene: CAPN3
Alternate names for this Gene: CANP3|CANPL3|LGMD2|LGMD2A|LGMDD4|LGMDR1|nCL-1|p94
Gene 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.
Gene is located in Chromosome: 15
Location in Chromosome : 15q15.1
Description of this Gene: calpain 3
Type of Gene: protein-coding
Gene: LOC105370794
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
rs121434545 in
CAPN3;LOC105370794 gene and
Limb-girdle muscular dystrophy type 2A
PMID 25135358 2014 Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
PMID 7720071 1995 Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
PMID 18055493 2007 Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
PMID 23821418 2013 Muscle pathology in 31 patients with calpain 3 gene mutations..
PMID 18854869 2009 How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.
PMID 9452114 1998 A small in-frame deletion within the protease domain of muscle-specific calpain, p94 causes early-onset limb-girdle muscular dystrophy 2A.
PMID 16141003 2005 Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
PMID 9150160 1997 Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.