CAPN3

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

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summary_text = 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.cite web | title = Entrez Gene: CAPN3 calpain 3, (p94)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=825| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Sorimachi H, Ishiura S, Suzuki K |title=Structure and physiological function of calpains. |journal=Biochem. J. |volume=328 ( Pt 3) |issue= |pages= 721–32 |year= 1998 |pmid= 9396712 |doi=
*cite journal | author=Kinbara K, Sorimachi H, Ishiura S, Suzuki K |title=Skeletal muscle-specific calpain, p49: structure and physiological function. |journal=Biochem. Pharmacol. |volume=56 |issue= 4 |pages= 415–20 |year= 1998 |pmid= 9763216 |doi=
*cite journal | author=Sorimachi H, Ono Y, Suzuki K |title=Skeletal muscle-specific calpain, p94, and connectin/titin: their physiological functions and relationship to limb-girdle muscular dystrophy type 2A. |journal=Adv. Exp. Med. Biol. |volume=481 |issue= |pages= 383–95; discussion 395–7 |year= 2000 |pmid= 10987085 |doi=
*cite journal | author=Baghdiguian S, Richard I, Martin M, "et al." |title=Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle. |journal=J. Mol. Med. |volume=79 |issue= 5-6 |pages= 254–61 |year= 2002 |pmid= 11485017 |doi=
*cite journal | author=Canki-Klain N, Milic A, Kovac B, "et al." |title=Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia. |journal=Am. J. Med. Genet. A |volume=125 |issue= 2 |pages= 152–6 |year= 2004 |pmid= 14981715 |doi= 10.1002/ajmg.a.20408
*cite journal | author=Kramerova I, Beckmann JS, Spencer MJ |title=Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A). |journal=Biochim. Biophys. Acta |volume=1772 |issue= 2 |pages= 128–44 |year= 2007 |pmid= 16934440 |doi= 10.1016/j.bbadis.2006.07.002
*cite journal | author=Ohno S, Minoshima S, Kudoh J, "et al." |title=Four genes for the calpain family locate on four distinct human chromosomes. |journal=Cytogenet. Cell Genet. |volume=53 |issue= 4 |pages= 225–9 |year= 1990 |pmid= 2209092 |doi=
*cite journal | author=Sorimachi H, Imajoh-Ohmi S, Emori Y, "et al." |title=Molecular cloning of a novel mammalian calcium-dependent protease distinct from both m- and mu-types. Specific expression of the mRNA in skeletal muscle. |journal=J. Biol. Chem. |volume=264 |issue= 33 |pages= 20106–11 |year= 1989 |pmid= 2555341 |doi=
*cite journal | author=Richard I, Broux O, Allamand V, "et al." |title=Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. |journal=Cell |volume=81 |issue= 1 |pages= 27–40 |year= 1995 |pmid= 7720071 |doi=
*cite journal | author=Sorimachi H, Kinbara K, Kimura S, "et al." |title=Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence. |journal=J. Biol. Chem. |volume=270 |issue= 52 |pages= 31158–62 |year= 1996 |pmid= 8537379 |doi=
*cite journal | author=Fardeau M, Hillaire D, Mignard C, "et al." |title=Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island. |journal=Brain |volume=119 ( Pt 1) |issue= |pages= 295–308 |year= 1996 |pmid= 8624690 |doi=
*cite journal | author=Corasaniti MT, Navarra M, Catani MV, "et al." |title=NMDA and HIV-1 coat protein, GP120, produce necrotic but not apoptotic cell death in human CHP100 neuroblastoma cultures via a mechanism involving calpain. |journal=Biochem. Biophys. Res. Commun. |volume=229 |issue= 1 |pages= 299–304 |year= 1997 |pmid= 8954122 |doi= 10.1006/bbrc.1996.1796
*cite journal | author=Richard I, Brenguier L, Dinçer P, "et al." |title=Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. |journal=Am. J. Hum. Genet. |volume=60 |issue= 5 |pages= 1128–38 |year= 1997 |pmid= 9150160 |doi=
*cite journal | author=Kinbara K, Sorimachi H, Ishiura S, Suzuki K |title=Muscle-specific calpain, p94, interacts with the extreme C-terminal region of connectin, a unique region flanked by two immunoglobulin C2 motifs. |journal=Arch. Biochem. Biophys. |volume=342 |issue= 1 |pages= 99–107 |year= 1997 |pmid= 9185618 |doi= 10.1006/abbi.1997.0108
*cite journal | author=Pratt VM, Jackson CE, Wallace DC, "et al." |title=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. |journal=Am. J. Hum. Genet. |volume=61 |issue= 1 |pages= 231–3 |year= 1997 |pmid= 9246005 |doi=
*cite journal | author=Dinçer P, Leturcq F, Richard I, "et al." |title=A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. |journal=Ann. Neurol. |volume=42 |issue= 2 |pages= 222–9 |year= 1997 |pmid= 9266733 |doi= 10.1002/ana.410420214
*cite journal | author=Ono Y, Shimada H, Sorimachi H, "et al." |title=Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A. |journal=J. Biol. Chem. |volume=273 |issue= 27 |pages= 17073–8 |year= 1998 |pmid= 9642272 |doi=
*cite journal | author=Pénisson-Besnier I, Richard I, Dubas F, "et al." |title=Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings. |journal=Muscle Nerve |volume=21 |issue= 8 |pages= 1078–80 |year= 1998 |pmid= 9655129 |doi=
*cite journal | author=Urtasun M, Sáenz A, Roudaut C, "et al." |title=Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain). |journal=Brain |volume=121 ( Pt 9) |issue= |pages= 1735–47 |year= 1998 |pmid= 9762961 |doi=

*cite journal | author=Huang Y, de Morrée A, van der Maarel SM, "et al." |title=Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. |journal=Human molecular genetics |volume=17 |issue=12 |year= 2008 |pmid= 18334579 |doi=

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