Biology:Collagen, type VI, alpha 2
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Short description: Protein found in humans
 Generic protein structure example |
Collagen alpha-2(VI) chain is a protein that in humans is encoded by the COL6A2 gene.[1]
Function
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 1, Ullrich congenital muscular dystrophy 1, and autosomal recessive myosclerosis myopathy.[2][3] Three transcript variants have been identified for this gene.[1]
References
- ↑ 1.0 1.1 "Entrez Gene: COL6A2 collagen, type VI, alpha 2". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=1292.
- ↑ "COLLAGEN, TYPE VI, ALPHA-2; COL6A2" (in en-us). https://www.omim.org/entry/120240.
- ↑ "Autosomal recessive myosclerosis myopathy is a collagen VI disorder". Neurology 71 (16): 1245–1253. October 2008. doi:10.1212/01.wnl.0000327611.01687.5e. PMID 18852439.
Further reading
- "Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy". European Journal of Paediatric Neurology 6 (4): 193–198. 2002. doi:10.1053/ejpn.2002.0593. PMID 12374585.
- "Collagen VI related muscle disorders". Journal of Medical Genetics 42 (9): 673–685. September 2005. doi:10.1136/jmg.2002.002311. PMID 16141002.
- "Binding of the proteoglycan decorin to collagen type VI". The Journal of Biological Chemistry 267 (8): 5250–5256. March 1992. doi:10.1016/S0021-9258(18)42759-7. PMID 1544908.
- "Human alpha 2(VI) collagen gene. Heterogeneity at the 5'-untranslated region generated by an alternate exon". The Journal of Biological Chemistry 267 (9): 6188–6196. March 1992. doi:10.1016/S0021-9258(18)42680-4. PMID 1556127.
- "Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin". The Journal of Infection 24 (3): 317–320. May 1992. doi:10.1016/S0163-4453(05)80037-4. PMID 1602151.
- "Alternative splicing of the human alpha 2(VI) collagen gene generates multiple mRNA transcripts which predict three protein variants with distinct carboxyl termini". The Journal of Biological Chemistry 265 (11): 6473–6480. April 1990. doi:10.1016/S0021-9258(19)39351-2. PMID 1690728.
- "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): 145–153. September 1991. doi:10.1016/0888-7543(91)90111-Q. PMID 1765372.
- "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". The EMBO Journal 8 (7): 1939–1946. July 1989. doi:10.1002/j.1460-2075.1989.tb03598.x. PMID 2551668.
- "Amino acid sequence of the triple-helical domain of human collagen type VI". The Journal of Biological Chemistry 263 (35): 18601–18606. December 1988. doi:10.1016/S0021-9258(18)37327-7. PMID 3198591.
- "Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen". American Journal of Human Genetics 42 (3): 435–445. March 1988. PMID 3348212.
- "Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones". European Journal of Biochemistry 168 (2): 309–317. October 1987. doi:10.1111/j.1432-1033.1987.tb13422.x. PMID 3665927.
- "Further characterization of the three polypeptide chains of bovine and human short-chain collagen (intima collagen)". European Journal of Biochemistry 133 (1): 39–46. June 1983. doi:10.1111/j.1432-1033.1983.tb07427.x. PMID 6852033.
- "Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI". European Journal of Biochemistry 221 (1): 177–185. April 1994. doi:10.1111/j.1432-1033.1994.tb18727.x. PMID 8168508.
- "Expression of NG2 proteoglycan causes retention of type VI collagen on the cell surface". Molecular Biology of the Cell 4 (11): 1097–1108. November 1993. doi:10.1091/mbc.4.11.1097. PMID 8305732.
- "Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures". Nature Genetics 14 (1): 113–115. September 1996. doi:10.1038/ng0996-113. PMID 8782832.
- "The membrane-spanning proteoglycan NG2 binds to collagens V and VI through the central nonglobular domain of its core protein". The Journal of Biological Chemistry 272 (16): 10769–10776. April 1997. doi:10.1074/jbc.272.16.10769. PMID 9099729.
- "Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen". The Journal of Biological Chemistry 272 (42): 26522–26529. October 1997. doi:10.1074/jbc.272.42.26522. PMID 9334230.
- "Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI". Proceedings of the National Academy of Sciences of the United States of America 98 (13): 7516–7521. June 2001. doi:10.1073/pnas.121027598. PMID 11381124. Bibcode: 2001PNAS...98.7516C.
- "Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype". Neurology 58 (4): 593–602. February 2002. doi:10.1212/wnl.58.4.593. PMID 11865138.
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