DYSF, Official Symbol DYSFprovided by HGNC Official Full Name dysferlinprovided by HGNC Primary source HGNC:HGNC:3097 See related Ensembl:ENSG00000135636 MIM:603009; AllianceGenome:HGNC:3097 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MMD1; FER1L1; LGMD2B; LGMDR2 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, Aug 2008] Expression Broad expression in spleen (RPKM 14.1), placenta (RPKM 13.8) and 21 other tissues See more Orthologs mouse all