Myoferlin

approved gene symbol MYOF. Another designation is FER1L3 [FER-1-like-3]. The cDNA has been identified independently as KIAA1207.

This protein of 234 kDa belongs to a family of proteins related to Caenorhabditis elegans ferlin (Britton et al, 2000). The protein is associated with the plasma membrane and also with the nuclear membrane. The protein has been implicated in membrane fusion events and Davis et al (2000) have suggested that it may be a candidate gene for muscular dystrophy and cardiomyopathy or a modifier of the muscular dystrophy phenotype. Doherty et al (2005) have shown that myoferlin is highly expressed in myoblasts undergoing fusion, and is expressed at the site of myoblasts fusing to ... ... ... ...
 
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Entry last modified: September 2016