Gene: LOC105370794

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs28364406 in LOC105370794;CAPN3 gene and Alcohol consumption PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

rs28364406 in LOC105370794;CAPN3 gene and High density lipoprotein measurement PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

rs1566975163 in LOC105370794;CAPN3 gene and Limb-girdle muscular dystrophy type 2A PMID 15689361 2005 LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

PMID 10330340 1999 Calpainopathy-a survey of mutations and polymorphisms.

PMID 9762961 1998 Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

PMID 9771675 1998 Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families.

PMID 18055493 2007 Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.

PMID 9266733 1997 A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.

PMID 9655129 1998 Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.

PMID 27234031 2017 Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.

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 8624690 1996 Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.

PMID 11297944 2001 The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach.

PMID 27020652 2017 Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.

PMID 7720071 1995 Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.

PMID 9150160 1997 Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.

PMID 20694146 2010 Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling.

PMID 17318636 2007 A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients.

PMID 21984748 2012 Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.

PMID 15351423 2004 Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome.

PMID 21204801 2011 Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?

PMID 14981715 2004 Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.

PMID 20635405 2010 Transcriptional and translational effects of intronic CAPN3 gene mutations.

PMID 27142102 2016 Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.

PMID 16100770 2005 Calpainopathy (LGMD2A) in Croatia: molecular and haplotype analysis.

PMID 15725583 2005 The frequency of limb girdle muscular dystrophy 2A in northeastern Italy.

PMID 10679950 2000 High incidence of 550delA mutation of CAPN3 in LGMD2 patients from Russia.

PMID 14578192 2003 Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression.

PMID 16141003 2005 Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.

PMID 16650086 2006 Screening of the CAPN3 gene in patients with possible LGMD2A.

PMID 19556129 2009 Immunohistochemical analysis of calpain 3: advantages and limitations in diagnosing LGMD2A.

rs28364406 in LOC105370794;CAPN3 gene and Triglycerides measurement PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.