Collagen VI est un gène codé par le symbole COL6A1. D'autres noms incluent: Collagen alpha-1(VI) chain; COL6A1. Collagen VI a une masse de 108.53kDa, une longueur d'acide aminé de 1028, et est impliqué dans les maladies: Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1.
Nous proposons 6 des anticorps contre Collagen VI, élevé dans Lapin, qui sont appropriés pour le WB, IHC, ELISA et ICC/IF avec des échantillons dérivés de Humain, Souris, Rat et Bovin.
Informations sur les Gènes et les Protéines
Résumé UniProt
Collagen VI acts as a cell-binding protein.
Résumé 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.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the type VI collagen family.
Modification post-traductionnelle
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
Localisation cellulaire
Secreted > Extracellular space > Extracellular matrix.
