caveolin 3
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L CAV3 gene provides instructions for making a protein called caveolin-3, which is found in the membrane surrounding muscle cells. This protein is the main component of caveolae, which are small pouches in the muscle cell membrane. Within the caveolae, the caveolin-3 protein acts as a scaffold to organize other molecules that are important for cell signaling and maintenance of the cell structure. These molecules include the proteins that make up sodium channels, which transport positively charged sodium atoms (sodium ions) into cells. Sodium channels play a key role in a cell's ability to generate and transmit electrical signals. In cardiac muscle, sodium channels are involved in maintaining the heart's normal rhythm. Caveolin-3 may also help regulate calcium levels in the muscle cell, which control muscle contraction and relaxation.
Normal function
L CAV3 gene provides instructions for making a protein called caveolin-3, which is found in the membrane surrounding muscle cells. This protein is the main component of caveolae, which are small pouches in the muscle cell membrane. Within the caveolae, the caveolin-3 protein acts as a scaffold to organize other molecules that are important for cell signaling and maintenance of the cell structure. These molecules include the proteins that make up sodium channels, which transport positively charged sodium atoms (sodium ions) into cells. Sodium channels play a key role in a cell's ability to generate and transmit electrical signals. In cardiac muscle, sodium channels are involved in maintaining the heart's normal rhythm. Caveolin-3 may also help regulate calcium levels in the muscle cell, which control muscle contraction and relaxation.
Conditions referring to this gene or chromosome
Altri nomi
CAV3_HUMAN
caveolin-3
LGMD1C
LQT9
M-caveolin
MGC126100
MGC126101
MGC126129
VIP-21
VIP21
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Ulteriori letture e riferimenti
- caveolin 3; MedlinePlus, National Library of Medicine.
- Aboumousa A, Hoogendijk J, Charlton R, Barresi R, Herrmann R, Voit T, Hudson J, Roberts M, Hilton-Jones D, Eagle M, Bushby K, Straub V. Caveolinopathy--new mutations and additional symptoms. Neuromuscul Disord. 2008 Jul;18(7):572-8. doi: 10.1016/j.nmd.2008.05.003. Epub 2008 Jun 25.
- Alias L, Gallano P, Moreno D, Pujol R, Martinez-Matos JA, Baiget M, Ferrer I, Olive M. A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia. Neuromuscul Disord. 2004 May;14(5):321-4. doi: 10.1016/j.nmd.2004.01.006.
- Balijepalli RC, Kamp TJ. Caveolae, ion channels and cardiac arrhythmias. Prog Biophys Mol Biol. 2008 Oct-Nov;98(2-3):149-60. doi: 10.1016/j.pbiomolbio.2009.01.012. Epub 2009 Jan 30.
- Catteruccia M, Sanna T, Santorelli FM, Tessa A, Di Giacopo R, Sauchelli D, Verbo A, Lo Monaco M, Servidei S. Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene. Neuromuscul Disord. 2009 Nov;19(11):779-83. doi: 10.1016/j.nmd.2009.08.015. Epub 2009 Sep 20.
- Gazzerro E, Bonetto A, Minetti C. Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders. Handb Clin Neurol. 2011;101:135-42. doi: 10.1016/B978-0-08-045031-5.00010-4.
- Gazzerro E, Sotgia F, Bruno C, Lisanti MP, Minetti C. Caveolinopathies: from the biology of caveolin-3 to human diseases. Eur J Hum Genet. 2010 Feb;18(2):137-45. doi: 10.1038/ejhg.2009.103. Epub 2009 Jul 8.
- Tateyama M, Aoki M, Nishino I, Hayashi YK, Sekiguchi S, Shiga Y, Takahashi T, Onodera Y, Haginoya K, Kobayashi K, Iinuma K, Nonaka I, Arahata K, Itoyama Y. Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. Neurology. 2002 Jan 22;58(2):323-5. doi: 10.1212/wnl.58.2.323.
- Traverso M, Bruno C, Broccolini A, Sotgia F, Donati MA, Assereto S, Gazzerro E, Lo Monaco M, Modoni A, D'Amico A, Gasperini S, Ricci E, Zara F, Lisanti M, Minetti C. Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease. J Neurol Neurosurg Psychiatry. 2008 Jun;79(6):735-7. doi: 10.1136/jnnp.2007.133207. No abstract available.
- Ullrich ND, Fischer D, Kornblum C, Walter MC, Niggli E, Zorzato F, Treves S. Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle. Hum Mutat. 2011 Mar;32(3):309-17. doi: 10.1002/humu.21431. Epub 2011 Feb 3.
- Vatta M, Ackerman MJ, Ye B, Makielski JC, Ughanze EE, Taylor EW, Tester DJ, Balijepalli RC, Foell JD, Li Z, Kamp TJ, Towbin JA. Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation. 2006 Nov 14;114(20):2104-12. doi: 10.1161/CIRCULATIONAHA.106.635268. Epub 2006 Oct 23.
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