分子量：Calculated MW: 17kDa/46kDa/49kDa/179kDa/229kDa/233kDa/234kDa
Observed MW: 250kDa

细胞定位：Cell membrane, Cytoplasmic vesicle membrane, Nucleus membrane, Single-pass type II membrane protein

稀释方法：WB 1:200 - 1:2000

总结：Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined.