[{"@context":"http:\/\/schema.org\/","@type":"BlogPosting","@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/collagen-type-vi-alpha-1\/#BlogPosting","mainEntityOfPage":"https:\/\/wiki.edu.vn\/en\/wiki24\/collagen-type-vi-alpha-1\/","headline":"Collagen, type VI, alpha 1","name":"Collagen, type VI, alpha 1","description":"From Wikipedia, the free encyclopedia Mammalian protein found in Homo sapiens Collagen alpha-1(VI) chain is a protein that in humans","datePublished":"2020-06-07","dateModified":"2020-06-07","author":{"@type":"Person","@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/author\/lordneo\/#Person","name":"lordneo","url":"https:\/\/wiki.edu.vn\/en\/wiki24\/author\/lordneo\/","image":{"@type":"ImageObject","@id":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","height":96,"width":96}},"publisher":{"@type":"Organization","name":"Enzyklop\u00e4die","logo":{"@type":"ImageObject","@id":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","url":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","width":600,"height":60}},"image":{"@type":"ImageObject","@id":"https:\/\/en.wikipedia.org\/wiki\/Special:CentralAutoLogin\/start?type=1x1","url":"https:\/\/en.wikipedia.org\/wiki\/Special:CentralAutoLogin\/start?type=1x1","height":"1","width":"1"},"url":"https:\/\/wiki.edu.vn\/en\/wiki24\/collagen-type-vi-alpha-1\/","wordCount":4619,"articleBody":"From Wikipedia, the free encyclopediaMammalian protein found in Homo sapiensCollagen alpha-1(VI) chain is a protein that in humans is encoded by the COL6A1 gene.[5]Table of ContentsFunction[edit]References[edit]Further reading[edit]External links[edit]Function[edit]The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy.[5]References[edit]Further reading[edit]Bertini E, Pepe G (2002). “Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy”. Eur. J. Paediatr. Neurol. 6 (4): 193\u20138. doi:10.1053\/ejpn.2002.0593. PMID\u00a012374585.Lampe AK, Bushby KM (2006). “Collagen VI related muscle disorders”. J. Med. Genet. 42 (9): 673\u201385. doi:10.1136\/jmg.2002.002311. PMC\u00a01736127. PMID\u00a016141002.Bidanset DJ, Guidry C, Rosenberg LC,  et\u00a0al. (1992). “Binding of the proteoglycan decorin to collagen type VI”. J. Biol. Chem. 267 (8): 5250\u20136. doi:10.1016\/S0021-9258(18)42759-7. PMID\u00a01544908.Saitta B, Wang YM, Renkart L,  et\u00a0al. (1992). “The exon organization of the triple-helical coding regions of the human alpha 1(VI) and alpha 2(VI) collagen genes is highly similar”. Genomics. 11 (1): 145\u201353. doi:10.1016\/0888-7543(91)90111-Q. PMID\u00a01765372.Chu ML, Pan TC, Conway D,  et\u00a0al. (1989). “Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two alpha 2(VI) chain variants that differ in the carboxy terminus”. EMBO J. 8 (7): 1939\u201346. doi:10.1002\/j.1460-2075.1989.tb03598.x. PMC\u00a0401054. PMID\u00a02551668.Chu ML, Conway D, Pan TC,  et\u00a0al. (1989). “Amino acid sequence of the triple-helical domain of human collagen type VI”. J. Biol. Chem. 263 (35): 18601\u20136. doi:10.1016\/S0021-9258(18)37327-7. PMID\u00a03198591.Weil D, Mattei MG, Passage E,  et\u00a0al. (1988). “Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen”. Am. J. Hum. Genet. 42 (3): 435\u201345. PMC\u00a01715162. PMID\u00a03348212.Chu ML, Mann K, Deutzmann R,  et\u00a0al. (1987). “Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones”. Eur. J. Biochem. 168 (2): 309\u201317. doi:10.1111\/j.1432-1033.1987.tb13422.x. PMID\u00a03665927.Jander R, Rauterberg J, Glanville RW (1983). “Further characterization of the three polypeptide chains of bovine and human short-chain collagen (intima collagen)”. Eur. J. Biochem. 133 (1): 39\u201346. doi:10.1111\/j.1432-1033.1983.tb07427.x. PMID\u00a06852033.Tillet E, Wiedemann H, Golbik R,  et\u00a0al. (1994). “Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI”. Eur. J. Biochem. 221 (1): 177\u201385. doi:10.1111\/j.1432-1033.1994.tb18727.x. PMID\u00a08168508.Saitta B, Chu ML (1996). “Characterization of the human alpha 1(VI) collagen promoter and its comparison with human alpha 2(VI) promoters”. Eur. J. Biochem. 234 (2): 542\u20139. doi:10.1111\/j.1432-1033.1995.542_b.x. PMID\u00a08536701.Jobsis GJ, Bolhuis PA, Boers JM,  et\u00a0al. (1996). “Genetic localization of Bethlem myopathy”. Neurology. 46 (3): 779\u201382. doi:10.1212\/wnl.46.3.779. PMID\u00a08618682. S2CID\u00a023010114.J\u00f6bsis GJ, Keizers H, Vreijling JP,  et\u00a0al. (1996). “Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures”. Nat. Genet. 14 (1): 113\u20135. doi:10.1038\/ng0996-113. PMID\u00a08782832. S2CID\u00a026173341.Bonaldo MF, Lennon G, Soares MB (1997). “Normalization and subtraction: two approaches to facilitate gene discovery”. Genome Res. 6 (9): 791\u2013806. doi:10.1101\/gr.6.9.791. PMID\u00a08889548.Trikka D, Davis T, Lapenta V,  et\u00a0al. (1997). “Human COL6A1: genomic characterization of the globular domains, structural and evolutionary comparison with COL6A2”. Mamm. Genome. 8 (5): 342\u20135. doi:10.1007\/s003359900436. PMID\u00a09107679. S2CID\u00a023649983.Kuo HJ, Maslen CL, Keene DR, Glanville RW (1997). “Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen”. J. Biol. Chem. 272 (42): 26522\u20139. doi:10.1074\/jbc.272.42.26522. PMID\u00a09334230.Sasaki T, Brakebusch C, Engel J, Timpl R (1998). “Mac-2 binding protein is a cell-adhesive protein of the extracellular matrix which self-assembles into ring-like structures and binds beta1 integrins, collagens and fibronectin”. EMBO J. 17 (6): 1606\u201313. doi:10.1093\/emboj\/17.6.1606. PMC\u00a01170508. PMID\u00a09501082.Lamand\u00e9 SR, Bateman JF, Hutchison W,  et\u00a0al. (1998). “Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency”. Hum. Mol. Genet. 7 (6): 981\u20139. doi:10.1093\/hmg\/7.6.981. PMID\u00a09580662.Pepe G, Giusti B, Bertini E,  et\u00a0al. (1999). “A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy”. Biochem. Biophys. Res. Commun. 258 (3): 802\u20137. doi:10.1006\/bbrc.1999.0680. PMID\u00a010329467.Merlini L, Villanova M, Sabatelli P,  et\u00a0al. (1999). “Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy”. Neuromuscul. Disord. 9 (5): 326\u20139. doi:10.1016\/S0960-8966(99)00022-X. PMID\u00a010407855. S2CID\u00a053256492.External links[edit]  "},{"@context":"http:\/\/schema.org\/","@type":"BreadcrumbList","itemListElement":[{"@type":"ListItem","position":1,"item":{"@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/#breadcrumbitem","name":"Enzyklop\u00e4die"}},{"@type":"ListItem","position":2,"item":{"@id":"https:\/\/wiki.edu.vn\/en\/wiki24\/collagen-type-vi-alpha-1\/#breadcrumbitem","name":"Collagen, type VI, alpha 1"}}]}]