Collagen VI è un gene codificato dal simbolo COL6A1. Altri nomi includono: Collagen alpha-1(VI) chain; COL6A1. Collagen VI ha una massa di 108.53kDa, una lunghezza di amminoacidi di 1028, ed è implicato nella malattia: Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1.
Offriamo 6 anticorpi contro Collagen VI, allevati nel Coniglio, che sono adatti per WB, IHC, ELISA e ICC/IF con campioni derivati da Umano, Topo, Ratto e Bovino.
Informazioni su geni e proteine
Riepilogo UniProt
Collagen VI acts as a cell-binding protein.
Sommario di Entrez
The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy.
Coinvolgimento nella malattia
Bethlem myopathy 1: A benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles.
Ullrich congenital muscular dystrophy 1: A 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.
Somiglianze di sequenza
Belongs to the type VI collagen family.
Modifica post-translazionale
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
Posizione cellulare
Secreted > Extracellular space > Extracellular matrix.
