Aliases for DYSF Gene
External Ids for DYSF Gene
Previous HGNC Symbols for DYSF Gene
Previous GeneCards Identifiers for DYSF Gene
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]
GeneCards Summary for DYSF Gene
DYSF (Dysferlin) is a Protein Coding gene. Diseases associated with DYSF include miyoshi muscular dystrophy 1 and myopathy, distal, with anterior tibial onset. Among its related pathways are Cardiac conduction and Smooth Muscle Contraction. GO annotations related to this gene include calcium ion binding and calcium-dependent phospholipid binding. An important paralog of this gene is FER1L6.
UniProtKB/Swiss-Prot for DYSF Gene
Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity).