CAPN3

Calpain 3, (p94)
Identifiers
Symbols	CAPN3 ; CANP3; CANPL3; LGMD2; LGMD2A; MGC10767; MGC11121; MGC14344; MGC4403; nCL-1; p94
External IDs	Template:OMIM5 Template:MGI HomoloGene: 52
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Calpain 3, (p94), also known as CAPN3, is a human gene.

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.

Further reading

• Sorimachi H, Ishiura S, Suzuki K (1998). "Structure and physiological function of calpains". Biochem. J. 328 ( Pt 3): 721–32. PMID 9396712.CS1 maint: Multiple names: authors list (link)
• Kinbara K, Sorimachi H, Ishiura S, Suzuki K (1998). "Skeletal muscle-specific calpain, p49: structure and physiological function". Biochem. Pharmacol. 56 (4): 415–20. PMID 9763216.CS1 maint: Multiple names: authors list (link)
• Sorimachi H, Ono Y, Suzuki K (2000). "Skeletal muscle-specific calpain, p94, and connectin/titin: their physiological functions and relationship to limb-girdle muscular dystrophy type 2A". Adv. Exp. Med. Biol. 481: 383–95, discussion 395–7. PMID 10987085.CS1 maint: Multiple names: authors list (link)
• Baghdiguian S, Richard I, Martin M; et al. (2002). "Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle". J. Mol. Med. 79 (5–6): 254–61. PMID 11485017.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Canki-Klain N, Milic A, Kovac B; et al. (2004). "Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia". Am. J. Med. Genet. A. 125 (2): 152–6. doi:10.1002/ajmg.a.20408. PMID 14981715.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kramerova I, Beckmann JS, Spencer MJ (2007). "Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A)". Biochim. Biophys. Acta. 1772 (2): 128–44. doi:10.1016/j.bbadis.2006.07.002. PMID 16934440.CS1 maint: Multiple names: authors list (link)
• Ohno S, Minoshima S, Kudoh J; et al. (1990). "Four genes for the calpain family locate on four distinct human chromosomes". Cytogenet. Cell Genet. 53 (4): 225–9. PMID 2209092.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sorimachi H, Imajoh-Ohmi S, Emori Y; et al. (1989). "Molecular cloning of a novel mammalian calcium-dependent protease distinct from both m- and mu-types. Specific expression of the mRNA in skeletal muscle". J. Biol. Chem. 264 (33): 20106–11. PMID 2555341.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Richard I, Broux O, Allamand V; et al. (1995). "Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A". Cell. 81 (1): 27–40. PMID 7720071.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sorimachi H, Kinbara K, Kimura S; et al. (1996). "Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence". J. Biol. Chem. 270 (52): 31158–62. PMID 8537379.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fardeau M, Hillaire D, Mignard C; et al. (1996). "Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island". Brain. 119 ( Pt 1): 295–308. PMID 8624690.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Corasaniti MT, Navarra M, Catani MV; et al. (1997). "NMDA and HIV-1 coat protein, GP120, produce necrotic but not apoptotic cell death in human CHP100 neuroblastoma cultures via a mechanism involving calpain". Biochem. Biophys. Res. Commun. 229 (1): 299–304. doi:10.1006/bbrc.1996.1796. PMID 8954122.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Richard I, Brenguier L, Dinçer P; et al. (1997). "Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins". Am. J. Hum. Genet. 60 (5): 1128–38. PMID 9150160.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kinbara K, Sorimachi H, Ishiura S, Suzuki K (1997). "Muscle-specific calpain, p94, interacts with the extreme C-terminal region of connectin, a unique region flanked by two immunoglobulin C2 motifs". Arch. Biochem. Biophys. 342 (1): 99–107. doi:10.1006/abbi.1997.0108. PMID 9185618.CS1 maint: Multiple names: authors list (link)
• Pratt VM, Jackson CE, Wallace DC; et al. (1997). "DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene". Am. J. Hum. Genet. 61 (1): 231–3. PMID 9246005.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Dinçer P, Leturcq F, Richard I; et al. (1997). "A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey". Ann. Neurol. 42 (2): 222–9. doi:10.1002/ana.410420214. PMID 9266733.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ono Y, Shimada H, Sorimachi H; et al. (1998). "Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A". J. Biol. Chem. 273 (27): 17073–8. PMID 9642272.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Pénisson-Besnier I, Richard I, Dubas F; et al. (1998). "Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings". Muscle Nerve. 21 (8): 1078–80. PMID 9655129.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Urtasun M, Sáenz A, Roudaut C; et al. (1998). "Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain)". Brain. 121 ( Pt 9): 1735–47. PMID 9762961.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

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