calpain 3
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The CAPN3 gene provides instructions for making an enzyme called calpain-3, which is found within muscle fiber structures called sarcomeres. Sarcomeres are needed for the tensing of muscle fibers (contraction). When linked together, sarcomeres form myofibrils, which are the basic units of muscle fibers.
Normal function
The CAPN3 gene provides instructions for making an enzyme called calpain-3, which is found within muscle fiber structures called sarcomeres. Sarcomeres are needed for the tensing of muscle fibers (contraction). When linked together, sarcomeres form myofibrils, which are the basic units of muscle fibers.
Calpain-3 cuts (cleaves) damaged proteins into shorter segments so that they can be easily removed from the sarcomere. The process of making new proteins and breaking down older proteins within the sarcomere is known as sarcomere remodeling. This process enables the muscle cells to adapt to the body's needs.
In addition to maintaining the sarcomeres, calpain-3 also interacts with other proteins to help regulate calcium transport within muscle fibers.
Conditions referring to this gene or chromosome
Other names
calcium-activated neutral protease 3, muscle-specific, large subunit
calpain
calpain, large polypeptide L3
CANP3
CANPL3
nCL-1
p94
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Leitura adicional e referências
- calpain 3; MedlinePlus, National Library of Medicine.
- Angelini C. Calpainopathy. 2005 May 10 [updated 2025 May 1]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1313/
- Beckmann JS, Spencer M. Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance. Neuromuscul Disord. 2008 Dec;18(12):913-21. doi: 10.1016/j.nmd.2008.08.005. Epub 2008 Oct 29.
- Broglio L, Tentorio M, Cotelli MS, Mancuso M, Vielmi V, Gregorelli V, Padovani A, Filosto M. Limb-girdle muscular dystrophy-associated protein diseases. Neurologist. 2010 Nov;16(6):340-52. doi: 10.1097/NRL.0b013e3181d35b39.
- Chen L, Tang F, Gao H, Zhang X, Li X, Xiao D. CAPN3: A muscle‑specific calpain with an important role in the pathogenesis of diseases (Review). Int J Mol Med. 2021 Nov;48(5):203. doi: 10.3892/ijmm.2021.5036. Epub 2021 Sep 22.
- Duguez S, Bartoli M, Richard I. Calpain 3: a key regulator of the sarcomere? FEBS J. 2006 Aug;273(15):3427-36. doi: 10.1111/j.1742-4658.2006.05351.x.
- Ermolova N, Kudryashova E, DiFranco M, Vergara J, Kramerova I, Spencer MJ. Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3. Hum Mol Genet. 2011 Sep 1;20(17):3331-45. doi: 10.1093/hmg/ddr239. Epub 2011 May 30.
- Guglieri M, Magri F, Comi GP. Molecular etiopathogenesis of limb girdle muscular and congenital muscular dystrophies: boundaries and contiguities. Clin Chim Acta. 2005 Nov;361(1-2):54-79. doi: 10.1016/j.cccn.2005.05.020.
- Guglieri M, Straub V, Bushby K, Lochmuller H. Limb-girdle muscular dystrophies. Curr Opin Neurol. 2008 Oct;21(5):576-84. doi: 10.1097/WCO.0b013e32830efdc2.
- Kramerova I, Beckmann JS, Spencer MJ. Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A). Biochim Biophys Acta. 2007 Feb;1772(2):128-44. doi: 10.1016/j.bbadis.2006.07.002. Epub 2006 Jul 15.
- Laval SH, Bushby KM. Limb-girdle muscular dystrophies--from genetics to molecular pathology. Neuropathol Appl Neurobiol. 2004 Apr;30(2):91-105. doi: 10.1111/j.1365-2990.2004.00555.x.
- Straub V, Bushby K. The childhood limb-girdle muscular dystrophies. Semin Pediatr Neurol. 2006 Jun;13(2):104-14. doi: 10.1016/j.spen.2006.06.006.
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