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. [provided by RefSeq, Jul 2008]
产品应用
应用
已检合格种属
预测种属
推荐稀释比例
WB
Human, Mouse, Rat
1:1000-5000
IHC-P
Human, Mouse, Rat
1:200-800
IHC-F
Human, Mouse, Rat
1:200-800
IF
Human, Mouse, Rat
1:200-800
交叉反应
交叉反应: Human, Mouse, Rat
相关产品
暂无相关产品
靶标
基因名
COL6A1
蛋白名
Collagen alpha-1(VI) chain
亚基
Trimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or alpha-6(VI).
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
疾病
Bethlem myopathy (BM) [MIM:158810]: A benign autosomal dominant proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles. Note=The disease is caused by mutations affecting the gene represented in this entry. Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]: UCMD is 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
相似性
Belongs to the type VI collagen family.
Contains 3 VWFA domains.