MYOF
Domain
The C2 domain 1 associates with lipid membranes in a calcium-dependent manner.
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 (By similarity).
Involvement in disease
Angioedema, hereditary, 7
HAE7
A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE7 is an autosomal dominant form characterized by onset of recurrent swelling of the face, lips, and oral mucosa in the second decade.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the ferlin family.
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.
Cellular localization
- 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
- Concentrated at the membrane sites of both myoblast-myoblast and myoblast-myotube fusions. Detected at the plasmalemma in endothelial cells lining intact blood vessels (By similarity). Found at nuclear and plasma membranes. Enriched in undifferentiated myoblasts near the plasma membrane in puncate structures.
Alternative names
FER1L3, KIAA1207, MYOF, Myoferlin, Fer-1-like protein 3