MYOF, Official Symbol MYOFprovided by HGNC Official Full Name myoferlinprovided by HGNC Primary source HGNC:HGNC:3656 See related Ensembl:ENSG00000138119 MIM:604603; AllianceGenome:HGNC:3656 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 HAE7; FER1L3 Summary Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008] Expression Broad expression in urinary bladder (RPKM 30.9), placenta (RPKM 28.9) and 22 other tissues See more Orthologs mouse all