2knt: Difference between revisions
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{{STRUCTURE_2knt| PDB=2knt | SCENE= }} | {{STRUCTURE_2knt| PDB=2knt | SCENE= }} | ||
===THE 1.2 ANGSTROM STRUCTURE OF KUNITZ TYPE DOMAIN C5=== | |||
{{ABSTRACT_PUBMED_9761897}} | |||
=== | ==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:009761897</ref><references group="xtra"/> | <ref group="xtra">PMID:009761897</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Arnoux, B.]] | [[Category: Arnoux, B.]] | ||
