| Modification Notes |
Myoferlin, also known as Fer-1-like protein 3, is a member of the ferlin family of proteins and is structurally similar to dysferlin. It is a type II transmembrane protein with a single transmembrane domain very near the C-terminus, an SH3 domain and six C2 domains in the C-terminus (designated C2A-C2F). Myoferlin is predominantly expressed in cardiac and skeletal muscle and it localizes to the nuclear and plasma membranes. The C2 domains of Myoferlin may be involved in calcium-mediated membrane fusion events suggesting that Myoferlin may play a role in membrane regeneration and repair. Myoferlin is also responsible for regulating the stability and signaling of Flk-1, the VEGF receptor-2. The loss of Myoferlin prevents proliferation, migration and the release of nitric oxide (NO) in response to VEGF. In addition, Myoferlin may be implicated in various types of muscular dystrophy and cardiomyopathy. |