CAPN3

This MedLibrary.org supplementary page on CAPN3 is provided directly from the open source Wikipedia as a service to our readers. Please see the note below on authorship of this content, as well as the Wikipedia usage guidelines. To search for other content from our encyclopedia supplement, please use the form below:

Related Sponsors

BM Pharmacy Generic pharmaceuticals at unbeatable prices. Insomnia, men's health, hair health, pain control. bmpharmacy.com
Online Pharmacy Carisoprodol, tadalafil, sildenafil, vardenafil and more... xlpharmacy.com
MedBasket.com Discreet. Inexpensive. Fast shipping. Great selection. What more can we say? medbasket.com
Frugalmed 2000 reasons to shop with us first. frugalmed.com
Ads by Tiva

Calpain 3, (p94)
Identifiers
Symbols CAPN3; CANP3; CANPL3; LGMD2; LGMD2A; MGC10767; MGC11121; MGC14344; MGC4403; nCL-1; p94
External IDs OMIM: 114240 MGI: 107437 HomoloGene: 52
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 825 12335
Ensembl n/a ENSMUSG00000062646
Uniprot n/a Q8C532
Refseq NM_000070 (mRNA)
NP_000061 (protein)		 NM_007601 (mRNA)
NP_031627 (protein)
Location n/a Chr 2: 120.1 - 120.2 Mb
Pubmed search [1] [2]

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.1

In melanocytic cells CAPN3 gene expression may be regulated by MITF2.

References

  1. ^ "Entrez Gene: CAPN3 calpain 3, (p94)".
  2. ^ Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665-76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. 

Further reading

  • Sorimachi H, Ishiura S, Suzuki K (1998). "Structure and physiological function of calpains.". Biochem. J. 328 ( Pt 3): 721–32. PMID 9396712. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • 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. 
  • Huang Y, de Morrée A, van der Maarel SM, et al. (2008). "Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle.". Human molecular genetics 17 (12). PMID 18334579. 

}}

 This protein-related article is a stub. You can help Wikipedia by expanding it.

Wikipedia content modification information:

  • This page was last modified on 11 December 2008, at 11:17.

Wikipedia Authorship and Review

Wikipedia content provided here is not reviewed directly by MedLibrary.org. Wikipedia content is authored by an open community of volunteers and is not produced by or in any way affiliated with MedLibrary.org.

Wikipedia Usage Guidelines

This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article on "CAPN3".

The URL for this specific entry is:

All Wikipedia text is available under the terms of the GNU Free Documentation License. (See Copyrights for details). Wikipedia® is a registered trademark of the Wikimedia Foundation, Inc.