Myotilin, a sarcomeric protein that is encoded by the gene mapping to human chromosome 5q31, binds to a-actinin and is localized in the Z-line of myofibrils . Myotilin is expressed in skeletal and cardiac muscle, and it co-localizes with a-actinin in the sarcomeric I-bands where it directly interacts with a-actinin . Defects in the myotilin gene are reported to cause a form of autosomal dominant limb-girdle muscular dystrophy (LGMD) (1). Symptoms of adult onset LGMD are progressive weakness of the hip and shoulder girdles as well as a distinctive dysarthric pattern of speech . The muscle of affected individuals with LGMD shows degeneration of myofibers, variations in fiber size, fiber splitting, centrally located myonuclei and an enhanced number of autophagic vesicles .
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is > 95% (by SDS-PAGE).
Formulierung:
Rabbit IgG, 1mg/ml in PBS with 0.02% sodium azide, 50% glycerol, pH7.2
