Myoferlin: Proteins and Enzymes

Myoferlin belongs to the ferlin family and contains five C2 domains. It is a calcium/phospholipid binding protein that plays a role in the plasmalemma repair mechanism of endothelial cells that permits rapid resealing of membranes disrupted by mechanical stress. It is also involved in endocytic recycling and implicated in VEGF signal transduction by regulating the levels of the receptor KDR. Myoferlin is expressed in myoblast and endothelial cells (at protein level), highly expressed in cardiac and skeletal muscles, also present in lung and at very low levels in kidney, placenta and brain. There are eight named isoforms.