COL6A2

COL6A2

Collagen, type VI, alpha 2, also known as COL6A2, is a human gene.cite web | title = Entrez Gene: COL6A2 collagen, type VI, alpha 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1292| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. 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 this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene.cite web | title = Entrez Gene: COL6A2 collagen, type VI, alpha 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1292| 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, Timpl R, Chu ML |title=Human alpha 2(VI) collagen gene. Heterogeneity at the 5'-untranslated region generated by an alternate exon. |journal=J. Biol. Chem. |volume=267 |issue= 9 |pages= 6188–96 |year= 1992 |pmid= 1556127 |doi=
*cite journal | author=Dawson SJ, White LA |title=Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin. |journal=J. Infect. |volume=24 |issue= 3 |pages= 317–20 |year= 1992 |pmid= 1602151 |doi=
*cite journal | author=Saitta B, Stokes DG, Vissing H, "et al." |title=Alternative splicing of the human alpha 2(VI) collagen gene generates multiple mRNA transcripts which predict three protein variants with distinct carboxyl termini. |journal=J. Biol. Chem. |volume=265 |issue= 11 |pages= 6473–80 |year= 1990 |pmid= 1690728 |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=Nishiyama A, Stallcup WB |title=Expression of NG2 proteoglycan causes retention of type VI collagen on the cell surface. |journal=Mol. Biol. Cell |volume=4 |issue= 11 |pages= 1097–108 |year= 1994 |pmid= 8305732 |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=Tillet E, Ruggiero F, Nishiyama A, Stallcup WB |title=The membrane-spanning proteoglycan NG2 binds to collagens V and VI through the central nonglobular domain of its core protein. |journal=J. Biol. Chem. |volume=272 |issue= 16 |pages= 10769–76 |year= 1997 |pmid= 9099729 |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=Hattori M, Fujiyama A, Taylor TD, "et al." |title=The DNA sequence of human chromosome 21. |journal=Nature |volume=405 |issue= 6784 |pages= 311–9 |year= 2000 |pmid= 10830953 |doi= 10.1038/35012518
*cite journal | author=Camacho Vanegas O, Bertini E, Zhang RZ, "et al." |title=Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=98 |issue= 13 |pages= 7516–21 |year= 2001 |pmid= 11381124 |doi= 10.1073/pnas.121027598
*cite journal | author=Scacheri PC, Gillanders EM, Subramony SH, "et al." |title=Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. |journal=Neurology |volume=58 |issue= 4 |pages= 593–602 |year= 2002 |pmid= 11865138 |doi=

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