Description
Product Characteristics:
The protein encoded by this gene 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 this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene 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. [provided by RefSeq, Aug 2008].
Subcellular location: Cell membrane
Synonyms: DMAT, DYSF, Dysferlin Dystrophy associated fer 1 like protein Fer 1 like protein 1, Dysferlin limb girdle muscular dystrophy 2B autosomal recessive, Dysferlin limb girdle muscular dystrophy 2B, Dystrophy associated fer 1 like 1, Dystrophy associated fer 1 like protein, Dystrophy associated fer1 like 1, Dystrophy associated fer1 like protein, Fer 1 like protein 1, Fer1 like protein 1, FER1L1, FLJ00175, FLJ90168, LGMD 2B, LGMD2B, Limb girdle muscular dystrophy 2B autosomal recessive, Limb girdle muscular dystrophy 2B, Miyoshi myopathy, MM, DYSF_HUMAN.
Target Information: The protein encoded by this gene 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 this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene 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. [provided by RefSeq, Aug 2008]