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
section_title =
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

PBB_Further_reading
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

PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes


Wikimedia Foundation. 2010.

Игры ⚽ Поможем сделать НИР

Look at other dictionaries:

  • Collagen — Tropocollagen triple helix Collagen /ˈkɒlədʒɨn/ is a group of naturally occurring proteins found in animals, especially in the flesh and connective tissues of mammals.[1] It is the main component of connectiv …   Wikipedia

  • Collagénopathie — Maladies héréditaires du collagène Les maladies héréditaires du collagène ou collagénopathies regroupent les maladies par mutation d un des gènes codant le collagène. Les manifestations principales sont : des anomalies osseuses, des… …   Wikipédia en Français

  • Maladies Héréditaires Du Collagène — Les maladies héréditaires du collagène ou collagénopathies regroupent les maladies par mutation d un des gènes codant le collagène. Les manifestations principales sont : des anomalies osseuses, des articulations, de la peau, des vaisseaux,… …   Wikipédia en Français

  • Maladies hereditaires du collagene — Maladies héréditaires du collagène Les maladies héréditaires du collagène ou collagénopathies regroupent les maladies par mutation d un des gènes codant le collagène. Les manifestations principales sont : des anomalies osseuses, des… …   Wikipédia en Français

  • Maladies héréditaires du collagène — Les maladies héréditaires du collagène ou collagénopathies regroupent les maladies par mutation d un des gènes codant le collagène. Les manifestations principales sont : des anomalies osseuses, des articulations, de la peau, des vaisseaux,… …   Wikipédia en Français

  • Myopathie de Bethlem — Classification et ressources externes OMIM 158810 DiseasesDB 32019 La myopathie de Bethlem est une maladie génétique musculaire de transmission autosomique dominante en rapport avec des …   Wikipédia en Français

  • Collagen, type VI, alpha 1 — Identifiers Symbols COL6A1; OPLL External IDs OMIM:&# …   Wikipedia

  • Collagen VI — is a form of collagen primarily associated with the extracellular matrix of skeletal muscle.[1] It is associated with the genes COL6A1, COL6A2, and COL6A3. Defects are associated with Bethlem myopathy and Ullrich congenital muscular… …   Wikipedia

  • Keratin — Not to be confused with kerogen, carotene, chitin, or creatine. Microscopy of keratin filaments inside cells. Keratin refers to a family of fibrous structural proteins. Keratin is the key structural material making up the outer layer of human… …   Wikipedia

  • Extracellular matrix — Illustration depicting extracellular matrix (basement membrane and interstitial matrix) in relation to epithelium, endothelium and connective tissue Latin …   Wikipedia

Share the article and excerpts

Direct link
… Do a right-click on the link above
and select “Copy Link”