Dysferlin is the protein product of the 2p13 gene that is defective in patients with Limb-Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi Myopathy (MM). The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is normally localized to the muscle plasma membrane. In patients with LGMD2B and MM, immunoreactivity to dysferlin is severely reduced or lost, depending on the type of mutation. This antibody is used for the characterization of LGMD2B and MM.
Clone
Polyclonal
Isotype
IgG
Host species
Rabbit
Species Reactivity
Human
Cellular Localization
Membrane
Positive Control
Skeletal muscle tissue
Applications
IHC
Intended Use
Research Use Only