Collagen VI ist ein Gen, das durch das Symbol COL6A1 kodiert wird. Andere Namen sind: Collagen alpha-1(VI) chain; COL6A1. Collagen VI hat eine Masse von 108.53kDa, eine Aminosäurelänge von 1028, und ist an folgenden Krankheiten beteiligt: Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1.
Wir bieten 6 antikörper gegen Collagen VI, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC, ELISA and ICC/IF mit Proben abgeleitet von Human, Maus, Ratte und Rind.
Gen- und Proteininformationen
UniProt Zusammenfassung
Collagen VI acts as a cell-binding protein.
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
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.
Sequenzähnlichkeiten
Belongs to the type VI collagen family.
Posttranslationale Modifikation
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
Zellort
Secreted > Extracellular space > Extracellular matrix.
