The protein encoded by DYSF(dysferlin) belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by DYSF binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in DYSF have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants.蛋白别名为:DYSF; FER1L1; Dysferlin; Dystrophy-associated fer-1-like protein; Fer-1-like protein 1;基因ID为:8291;蛋白质ID:O75923
应用类型
WB,IF,ELISA补充:最优的抗体稀释比例需要基于客户实验进行优化.建议的起始稀释比例如下: WB: 1:500-1:2000, IF: 1:200-1:1000, ELISA: 1:10000. Not yet tested in other applications.
免疫原
合成多肽:the C-terminal region of human Dysferlin. at AA rangle: 1950-2030