Recombinant Human Myoferlin (MYOF), Truncated

Uniprot Id

Q9NZM1

Target Species

Human

Target Name

MYOF

Target Full Name

Myoferlin

Target Function

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. Involved in endocytic recycling. Implicated in VEGF signal transduction by regulating the levels of the receptor KDR.

Target Subcellular Location

Cell membrane; Single-pass type II membrane protein. Nucleus membrane; Single-pass type II membrane protein. Cytoplasmic vesicle membrane; Single-pass type II membrane protein.

Target Protein Families

Ferlin family

Target Tissue Specificity

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.

Target Synonyms

Fer 1 like 3, myoferlin (C. elegans) ; Fer 1 like family member 3; Fer 1 like protein 3; Fer-1-like protein 3; FER1L3; myoF; MYOF_HUMAN; Myoferlin

Target Background

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.