MYOF

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.

MYOFERLIN

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).

Blood circulation Source: ProtInc
Membrane fusion Source: GO_Central
Muscle contraction Source: ProtInc
Myoblast fusion Source: InterPro
Plasma membrane organization Source: GO_Central
Plasma membrane repair Source: UniProtKB
T-tubule organization Source: GO_Central

Nucleus
Nucleus membrane
Plasma membrane
Cell membrane
Other locations
Cytoplasmic vesicle membrane
Note: 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.

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.

Cytoplasmic: 1-2025
Helical: 2026-2046
Extracellular: 2047-2061