Products

Qualitative

Entrez GeneID

Protein Accession#

Gene Name

DYSF

Gene Alias

FER1L1, FLJ00175, FLJ90168, LGMD2B

Gene Description

dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)

Omim ID

Gene Ontology

Gene Summary

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

Other Designations

dysferlin|dystrophy-associated fer-1-like 1