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{{STRUCTURE_1kth| PDB=1kth | SCENE= }} | {{STRUCTURE_1kth| PDB=1kth | SCENE= }} | ||
===The Anisotropic Refinement Of Kunitz Type Domain C5 at 0.95 Angstrom=== | |||
{{ABSTRACT_PUBMED_12077460}} | |||
===The | ==Disease== | ||
[[http://www.uniprot.org/uniprot/CO6A3_HUMAN CO6A3_HUMAN]] Defects in COL6A3 are a cause of Bethlem myopathy (BM) [MIM:[http://omim.org/entry/158810 158810]]. BM is a rare autosomal dominant proximal myopathy characterized by early childhood onset (complete penetrance by the age of 5) and joint contractures most frequently affecting the elbows and ankles.<ref>PMID:11992252</ref><ref>PMID:9536084</ref><ref>PMID:10399756</ref><ref>PMID:15689448</ref><ref>PMID:17886299</ref> Defects in COL6A3 are a cause of Ullrich congenital muscular dystrophy (UCMD) [MIM:[http://omim.org/entry/254090 254090]]; also known as Ullrich scleroatonic muscular dystrophy. UCMD is an autosomal recessive congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy.<ref>PMID:11992252</ref><ref>PMID:15689448</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/CO6A3_HUMAN CO6A3_HUMAN]] Collagen VI acts as a cell-binding protein. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:012077460</ref><ref group="xtra">PMID:018754631</ref><references group="xtra"/> | <ref group="xtra">PMID:012077460</ref><ref group="xtra">PMID:018754631</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Arnoux, B.]] | [[Category: Arnoux, B.]] | ||
Revision as of 02:05, 25 March 2013
The Anisotropic Refinement Of Kunitz Type Domain C5 at 0.95 AngstromThe Anisotropic Refinement Of Kunitz Type Domain C5 at 0.95 Angstrom
Template:ABSTRACT PUBMED 12077460
DiseaseDisease
[CO6A3_HUMAN] Defects in COL6A3 are a cause of Bethlem myopathy (BM) [MIM:158810]. BM is a rare autosomal dominant proximal myopathy characterized by early childhood onset (complete penetrance by the age of 5) and joint contractures most frequently affecting the elbows and ankles.[1][2][3][4][5] Defects in COL6A3 are a cause of Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]; also known as Ullrich scleroatonic muscular dystrophy. UCMD is an autosomal recessive congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy.[6][7]
FunctionFunction
[CO6A3_HUMAN] Collagen VI acts as a cell-binding protein.
About this StructureAbout this Structure
1kth is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
See AlsoSee Also
ReferenceReference
- ↑ Arnoux B, Ducruix A, Prange T. Anisotropic behaviour of the C-terminal Kunitz-type domain of the alpha3 chain of human type VI collagen at atomic resolution (0.9 A). Acta Crystallogr D Biol Crystallogr. 2002 Jul;58(Pt 7):1252-4. Epub 2002, Jun 20. PMID:12077460
- ↑ Chen X, Weber I, Harrison RW. Hydration water and bulk water in proteins have distinct properties in radial distributions calculated from 105 atomic resolution crystal structures. J Phys Chem B. 2008 Sep 25;112(38):12073-80. Epub 2008 Aug 28. PMID:18754631 doi:10.1021/jp802795a
- ↑ Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, Topaloglu H, Echenne B, Merlini L, Guicheney P. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am J Hum Genet. 2002 Jun;70(6):1446-58. Epub 2002 Apr 24. PMID:11992252 doi:S0002-9297(07)60697-1
- ↑ Pan TC, Zhang RZ, Pericak-Vance MA, Tandan R, Fries T, Stajich JM, Viles K, Vance JM, Chu ML, Speer MC. Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. Hum Mol Genet. 1998 May;7(5):807-12. PMID:9536084
- ↑ Pepe G, Bertini E, Giusti B, Brunelli T, Comeglio P, Saitta B, Merlini L, Chu ML, Federici G, Abbate R. A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen. Neuromuscul Disord. 1999 Jun;9(4):264-71. PMID:10399756
- ↑ Lampe AK, Dunn DM, von Niederhausern AC, Hamil C, Aoyagi A, Laval SH, Marie SK, Chu ML, Swoboda K, Muntoni F, Bonnemann CG, Flanigan KM, Bushby KM, Weiss RB. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. J Med Genet. 2005 Feb;42(2):108-20. PMID:15689448 doi:42/2/108
- ↑ Baker NL, Morgelin M, Pace RA, Peat RA, Adams NE, Gardner RJ, Rowland LP, Miller G, De Jonghe P, Ceulemans B, Hannibal MC, Edwards M, Thompson EM, Jacobson R, Quinlivan RC, Aftimos S, Kornberg AJ, North KN, Bateman JF, Lamande SR. Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Ann Neurol. 2007 Oct;62(4):390-405. PMID:17886299 doi:10.1002/ana.21213
- ↑ Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, Topaloglu H, Echenne B, Merlini L, Guicheney P. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am J Hum Genet. 2002 Jun;70(6):1446-58. Epub 2002 Apr 24. PMID:11992252 doi:S0002-9297(07)60697-1
- ↑ Lampe AK, Dunn DM, von Niederhausern AC, Hamil C, Aoyagi A, Laval SH, Marie SK, Chu ML, Swoboda K, Muntoni F, Bonnemann CG, Flanigan KM, Bushby KM, Weiss RB. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. J Med Genet. 2005 Feb;42(2):108-20. PMID:15689448 doi:42/2/108