COL6A3

COL6A3

Collagen, type VI, alpha 3, also known as COL6A3, is a human gene.cite web | title = Entrez Gene: COL6A3 collagen, type VI, alpha 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1293| accessdate = ]

PBB_Summary
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summary_text = This gene encodes the alpha 3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha 3 chain of type VI collagen is much larger than the alpha 1 and 2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy. In addition to the full length transcript, four transcript variants have been identified that encode proteins with N-terminal globular domains of varying sizes.cite web | title = Entrez Gene: COL6A3 collagen, type VI, alpha 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1293| accessdate = ]

References

Further reading

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citations =
*cite journal | author=Lampe AK, Bushby KM |title=Collagen VI related muscle disorders. |journal=J. Med. Genet. |volume=42 |issue= 9 |pages= 673–85 |year= 2006 |pmid= 16141002 |doi= 10.1136/jmg.2002.002311
*cite journal | author=Zanussi S, Doliana R, Segat D, "et al." |title=The human type VI collagen gene. mRNA and protein variants of the alpha 3 chain generated by alternative splicing of an additional 5-end exon. |journal=J. Biol. Chem. |volume=267 |issue= 33 |pages= 24082–9 |year= 1992 |pmid= 1339440 |doi=
*cite journal | author=Chu ML, Zhang RZ, Pan TC, "et al." |title=Mosaic structure of globular domains in the human type VI collagen alpha 3 chain: similarity to von Willebrand factor, fibronectin, actin, salivary proteins and aprotinin type protease inhibitors. |journal=EMBO J. |volume=9 |issue= 2 |pages= 385–93 |year= 1990 |pmid= 1689238 |doi=
*cite journal | author=Chu ML, Conway D, Pan TC, "et al." |title=Amino acid sequence of the triple-helical domain of human collagen type VI. |journal=J. Biol. Chem. |volume=263 |issue= 35 |pages= 18601–6 |year= 1989 |pmid= 3198591 |doi=
*cite journal | author=Weil D, Mattei MG, Passage E, "et al." |title=Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen. |journal=Am. J. Hum. Genet. |volume=42 |issue= 3 |pages= 435–45 |year= 1988 |pmid= 3348212 |doi=
*cite journal | author=Chu ML, Mann K, Deutzmann R, "et al." |title=Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones. |journal=Eur. J. Biochem. |volume=168 |issue= 2 |pages= 309–17 |year= 1987 |pmid= 3665927 |doi=
*cite journal | author=Arnoux B, Mérigeau K, Saludjian P, "et al." |title=The 1.6 A structure of Kunitz-type domain from the alpha 3 chain of human type VI collagen. |journal=J. Mol. Biol. |volume=246 |issue= 5 |pages= 609–17 |year= 1995 |pmid= 7533217 |doi=
*cite journal | author=Pfaff M, Aumailley M, Specks U, "et al." |title=Integrin and Arg-Gly-Asp dependence of cell adhesion to the native and unfolded triple helix of collagen type VI. |journal=Exp. Cell Res. |volume=206 |issue= 1 |pages= 167–76 |year= 1993 |pmid= 8387021 |doi= 10.1006/excr.1993.1134
*cite journal | author=Jöbsis GJ, Keizers H, Vreijling JP, "et al." |title=Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. |journal=Nat. Genet. |volume=14 |issue= 1 |pages= 113–5 |year= 1996 |pmid= 8782832 |doi= 10.1038/ng0996-113
*cite journal | author=Zweckstetter M, Czisch M, Mayer U, "et al." |title=Structure and multiple conformations of the kunitz-type domain from human type VI collagen alpha3(VI) chain in solution. |journal=Structure |volume=4 |issue= 2 |pages= 195–209 |year= 1997 |pmid= 8805527 |doi=
*cite journal | author=Myint E, Brown DJ, Ljubimov AV, "et al." |title=Cleavage of human corneal type VI collagen alpha 3 chain by matrix metalloproteinase-2. |journal=Cornea |volume=15 |issue= 5 |pages= 490–6 |year= 1996 |pmid= 8862926 |doi=
*cite journal | author=Sorensen MD, Bjorn S, Norris K, "et al." |title=Solution structure and backbone dynamics of the human alpha3-chain type VI collagen C-terminal Kunitz domain,. |journal=Biochemistry |volume=36 |issue= 34 |pages= 10439–50 |year= 1997 |pmid= 9265624 |doi= 10.1021/bi9705570
*cite journal | author=Lamandé SR, Sigalas E, Pan TC, "et al." |title=The role of the alpha3(VI) chain in collagen VI assembly. Expression of an alpha3(VI) chain lacking N-terminal modules N10-N7 restores collagen VI assembly, secretion, and matrix deposition in an alpha3(VI)-deficient cell line. |journal=J. Biol. Chem. |volume=273 |issue= 13 |pages= 7423–30 |year= 1998 |pmid= 9516440 |doi=
*cite journal | author=Klewer SE, Krob SL, Kolker SJ, Kitten GT |title=Expression of type VI collagen in the developing mouse heart. |journal=Dev. Dyn. |volume=211 |issue= 3 |pages= 248–55 |year= 1998 |pmid= 9520112 |doi= 10.1002/(SICI)1097-0177(199803)211:3<248::AID-AJA6>3.0.CO;2-H |doilabel=10.1002/(SICI)1097-0177(199803)211:3248::AID-AJA63.0.CO;2-H
*cite journal | author=Pan TC, Zhang RZ, Pericak-Vance MA, "et al." |title=Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. |journal=Hum. Mol. Genet. |volume=7 |issue= 5 |pages= 807–12 |year= 1998 |pmid= 9536084 |doi=
*cite journal | author=Aigner T, Hambach L, Söder S, "et al." |title=The C5 domain of Col6A3 is cleaved off from the Col6 fibrils immediately after secretion. |journal=Biochem. Biophys. Res. Commun. |volume=290 |issue= 2 |pages= 743–8 |year= 2002 |pmid= 11785962 |doi= 10.1006/bbrc.2001.6227
*cite journal | author=Demir E, Sabatelli P, Allamand V, "et al." |title=Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. |journal=Am. J. Hum. Genet. |volume=70 |issue= 6 |pages= 1446–58 |year= 2002 |pmid= 11992252 |doi=
*cite journal | author=Mercuri E, Yuva Y, Brown SC, "et al." |title=Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study. |journal=Neurology |volume=58 |issue= 9 |pages= 1354–9 |year= 2002 |pmid= 12011280 |doi=
*cite journal | author=Arnoux B, Ducruix A, Prangé T |title=Anisotropic behaviour of the C-terminal Kunitz-type domain of the alpha3 chain of human type VI collagen at atomic resolution (0.9 A). |journal=Acta Crystallogr. D Biol. Crystallogr. |volume=58 |issue= Pt 7 |pages= 1252–4 |year= 2003 |pmid= 12077460 |doi=
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285

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