Linked Life Data

P12110

Source:http://identifiers.org/uniprot/P12110

Statements in which the resource exists.
SubjectPredicateObjectContext
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http://identifiers.org/unip...biopax3:commentFUNCTION: Collagen VI acts as a cell-binding protein. SUBUNIT: Trimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or alpha-6(VI). Interacts with CSPG4. SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix. Membrane; Peripheral membrane protein. Note=Recruited on membranes by CSPG4. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=3; Name=2C2; IsoId=P12110-1; Sequence=Displayed; Name=2C2A; IsoId=P12110-2; Sequence=VSP_001163, VSP_001164; Name=2C2A'; IsoId=P12110-3; Sequence=VSP_001161, VSP_001162; PTM: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. DISEASE: Defects in COL6A2 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. DISEASE: Defects in COL6A2 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. DISEASE: Defects in COL6A2 are the cause of myosclerosis autosomal recessive (MYOSAR) [MIM:255600]; also known as myosclerotic myopathy or congenital myosclerosis of Lowenthal. A condition characterized by chronic inflammation of skeletal muscle with hyperplasia of the interstitial connective tissue. The clinical picture includes slender muscles with firm 'woody' consistency and restriction of movement of many joints because of muscle contractures. SIMILARITY: Belongs to the type VI collagen family. SIMILARITY: Contains 3 VWFA domains. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL6A2"; GENE SYNONYMS:COL6A2. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.lld:biopax3
http://identifiers.org/unip...biopax3:commentSEQUENCE 1019 AA; 108579 MW; 6C513ADE46C1D111 CRC64;lld:biopax3
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