- Caveolin 3
Caveolin 3, also known as CAV3, is a human
gene .cite web | title = Entrez Gene: CAV3 caveolin 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=859| accessdate = ]PBB_Summary
section_title =
summary_text = This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting inLimb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites.cite web | title = Entrez Gene: CAV3 caveolin 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=859| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Figarella-Branger D, Pouget J, Bernard R, "et al." |title=Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene. |journal=Neurology |volume=61 |issue= 4 |pages= 562–4 |year= 2004 |pmid= 12939441 |doi=
*cite journal | author=Woodman SE, Sotgia F, Galbiati F, "et al." |title=Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. |journal=Neurology |volume=62 |issue= 4 |pages= 538–43 |year= 2005 |pmid= 14981167 |doi=
*cite journal | author=Li S, Okamoto T, Chun M, "et al." |title=Evidence for a regulated interaction between heterotrimeric G proteins and caveolin. |journal=J. Biol. Chem. |volume=270 |issue= 26 |pages= 15693–701 |year= 1995 |pmid= 7797570 |doi=
*cite journal | author=Tang Z, Scherer PE, Okamoto T, "et al." |title=Molecular cloning of caveolin-3, a novel member of the caveolin gene family expressed predominantly in muscle. |journal=J. Biol. Chem. |volume=271 |issue= 4 |pages= 2255–61 |year= 1996 |pmid= 8567687 |doi=
*cite journal | author=Scherer PE, Lisanti MP |title=Association of phosphofructokinase-M with caveolin-3 in differentiated skeletal myotubes. Dynamic regulation by extracellular glucose and intracellular metabolites. |journal=J. Biol. Chem. |volume=272 |issue= 33 |pages= 20698–705 |year= 1997 |pmid= 9252390 |doi=
*cite journal | author=Venema VJ, Ju H, Zou R, Venema RC |title=Interaction of neuronal nitric-oxide synthase with caveolin-3 in skeletal muscle. Identification of a novel caveolin scaffolding/inhibitory domain. |journal=J. Biol. Chem. |volume=272 |issue= 45 |pages= 28187–90 |year= 1997 |pmid= 9353265 |doi=
*cite journal | author=Couet J, Sargiacomo M, Lisanti MP |title=Interaction of a receptor tyrosine kinase, EGF-R, with caveolins. Caveolin binding negatively regulates tyrosine and serine/threonine kinase activities. |journal=J. Biol. Chem. |volume=272 |issue= 48 |pages= 30429–38 |year= 1997 |pmid= 9374534 |doi=
*cite journal | author=McNally EM, de Sá Moreira E, Duggan DJ, "et al." |title=Caveolin-3 in muscular dystrophy. |journal=Hum. Mol. Genet. |volume=7 |issue= 5 |pages= 871–7 |year= 1998 |pmid= 9536092 |doi=
*cite journal | author=Minetti C, Sotgia F, Bruno C, "et al." |title=Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. |journal=Nat. Genet. |volume=18 |issue= 4 |pages= 365–8 |year= 1998 |pmid= 9537420 |doi= 10.1038/ng0498-365
*cite journal | author=Biederer C, Ries S, Drobnik W, Schmitz G |title=Molecular cloning of human caveolin 3. |journal=Biochim. Biophys. Acta |volume=1406 |issue= 1 |pages= 5–9 |year= 1998 |pmid= 9545514 |doi=
*cite journal | author=Yamamoto M, Toya Y, Schwencke C, "et al." |title=Caveolin is an activator of insulin receptor signaling. |journal=J. Biol. Chem. |volume=273 |issue= 41 |pages= 26962–8 |year= 1998 |pmid= 9756945 |doi=
*cite journal | author=Sotgia F, Minetti C, Lisanti MP |title=Localization of the human caveolin-3 gene to the D3S18/D3S4163/D3S4539 locus (3p25), in close proximity to the human oxytocin receptor gene. Identification of the caveolin-3 gene as a candidate for deletion in 3p-syndrome. |journal=FEBS Lett. |volume=452 |issue= 3 |pages= 177–80 |year= 1999 |pmid= 10386585 |doi=
*cite journal | author=Carbone I, Bruno C, Sotgia F, "et al." |title=Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. |journal=Neurology |volume=54 |issue= 6 |pages= 1373–6 |year= 2000 |pmid= 10746614 |doi=
*cite journal | author=Biederer CH, Ries SJ, Moser M, "et al." |title=The basic helix-loop-helix transcription factors myogenin and Id2 mediate specific induction of caveolin-3 gene expression during embryonic development. |journal=J. Biol. Chem. |volume=275 |issue= 34 |pages= 26245–51 |year= 2000 |pmid= 10835421 |doi= 10.1074/jbc.M001430200
*cite journal | author=Sotgia F, Lee JK, Das K, "et al." |title=Caveolin-3 directly interacts with the C-terminal tail of beta -dystroglycan. Identification of a central WW-like domain within caveolin family members. |journal=J. Biol. Chem. |volume=275 |issue= 48 |pages= 38048–58 |year= 2001 |pmid= 10988290 |doi= 10.1074/jbc.M005321200
*cite journal | author=Herrmann R, Straub V, Blank M, "et al." |title=Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. |journal=Hum. Mol. Genet. |volume=9 |issue= 15 |pages= 2335–40 |year= 2001 |pmid= 11001938 |doi=
*cite journal | author=Hagiwara Y, Sasaoka T, Araishi K, "et al." |title=Caveolin-3 deficiency causes muscle degeneration in mice. |journal=Hum. Mol. Genet. |volume=9 |issue= 20 |pages= 3047–54 |year= 2001 |pmid= 11115849 |doi=
*cite journal | author=de Paula F, Vainzof M, Bernardino AL, "et al." |title=Mutations in the caveolin-3 gene: When are they pathogenic? |journal=Am. J. Med. Genet. |volume=99 |issue= 4 |pages= 303–7 |year= 2001 |pmid= 11251997 |doi=
*cite journal | author=Betz RC, Schoser BG, Kasper D, "et al." |title=Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. |journal=Nat. Genet. |volume=28 |issue= 3 |pages= 218–9 |year= 2001 |pmid= 11431690 |doi= 10.1038/90050
*cite journal | author=Matsuda C, Hayashi YK, Ogawa M, "et al." |title=The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. |journal=Hum. Mol. Genet. |volume=10 |issue= 17 |pages= 1761–6 |year= 2002 |pmid= 11532985 |doi=PBB_Controls
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