COL6A1

COL6A1

Collagen, type VI, alpha 1, also known as COL6A1, is a human gene.cite web | title = Entrez Gene: COL6A1 collagen, type VI, alpha 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1291| accessdate = ]

PBB_Summary
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summary_text = 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.cite web | title = Entrez Gene: COL6A1 collagen, type VI, alpha 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1291| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Bertini E, Pepe G |title=Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. |journal=Eur. J. Paediatr. Neurol. |volume=6 |issue= 4 |pages= 193–8 |year= 2002 |pmid= 12374585 |doi=
*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=Bidanset DJ, Guidry C, Rosenberg LC, "et al." |title=Binding of the proteoglycan decorin to collagen type VI. |journal=J. Biol. Chem. |volume=267 |issue= 8 |pages= 5250–6 |year= 1992 |pmid= 1544908 |doi=
*cite journal | author=Saitta B, Wang YM, Renkart L, "et al." |title=The exon organization of the triple-helical coding regions of the human alpha 1(VI) and alpha 2(VI) collagen genes is highly similar. |journal=Genomics |volume=11 |issue= 1 |pages= 145–53 |year= 1992 |pmid= 1765372 |doi=
*cite journal | author=Chu ML, Pan TC, Conway D, "et al." |title=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. |journal=EMBO J. |volume=8 |issue= 7 |pages= 1939–46 |year= 1989 |pmid= 2551668 |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=Jander R, Rauterberg J, Glanville RW |title=Further characterization of the three polypeptide chains of bovine and human short-chain collagen (intima collagen). |journal=Eur. J. Biochem. |volume=133 |issue= 1 |pages= 39–46 |year= 1983 |pmid= 6852033 |doi=
*cite journal | author=Tillet E, Wiedemann H, Golbik R, "et al." |title=Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI. |journal=Eur. J. Biochem. |volume=221 |issue= 1 |pages= 177–85 |year= 1994 |pmid= 8168508 |doi=
*cite journal | author=Saitta B, Chu ML |title=Characterization of the human alpha 1(VI) collagen promoter and its comparison with human alpha 2(VI) promoters. |journal=Eur. J. Biochem. |volume=234 |issue= 2 |pages= 542–9 |year= 1996 |pmid= 8536701 |doi=
*cite journal | author=Jobsis GJ, Bolhuis PA, Boers JM, "et al." |title=Genetic localization of Bethlem myopathy. |journal=Neurology |volume=46 |issue= 3 |pages= 779–82 |year= 1996 |pmid= 8618682 |doi=
*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=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Trikka D, Davis T, Lapenta V, "et al." |title=Human COL6A1: genomic characterization of the globular domains, structural and evolutionary comparison with COL6A2. |journal=Mamm. Genome |volume=8 |issue= 5 |pages= 342–5 |year= 1997 |pmid= 9107679 |doi=
*cite journal | author=Kuo HJ, Maslen CL, Keene DR, Glanville RW |title=Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen. |journal=J. Biol. Chem. |volume=272 |issue= 42 |pages= 26522–9 |year= 1997 |pmid= 9334230 |doi=
*cite journal | author=Sasaki T, Brakebusch C, Engel J, Timpl R |title=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. |journal=EMBO J. |volume=17 |issue= 6 |pages= 1606–13 |year= 1998 |pmid= 9501082 |doi= 10.1093/emboj/17.6.1606
*cite journal | author=Lamandé SR, Bateman JF, Hutchison W, "et al." |title=Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency. |journal=Hum. Mol. Genet. |volume=7 |issue= 6 |pages= 981–9 |year= 1998 |pmid= 9580662 |doi=
*cite journal | author=Pepe G, Giusti B, Bertini E, "et al." |title=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. |journal=Biochem. Biophys. Res. Commun. |volume=258 |issue= 3 |pages= 802–7 |year= 1999 |pmid= 10329467 |doi= 10.1006/bbrc.1999.0680
*cite journal | author=Merlini L, Villanova M, Sabatelli P, "et al." |title=Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy. |journal=Neuromuscul. Disord. |volume=9 |issue= 5 |pages= 326–9 |year= 1999 |pmid= 10407855 |doi=

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