DefinitionThis section has been translated automatically.
The MYOF gene (MYOF stands for "myoferlin") is a protein-coding gene located on chromosome 10q23.33. Two transcript variants encoding different isoforms have been found for this gene.
General informationThis section has been translated automatically.
The protein encoded by this gene, "myoferlin," is a type II membrane protein structurally similar to dysferlin(dysferlin, also known as dystrophy-associated Fer-1-like protein; is associated with skeletal muscle repair). 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.
Myoferlin is a calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of endothelial cells, allowing rapid resealing of membranes damaged by mechanical stress. Involved in endocytic recycling. Involved in VEGF signal transduction by regulating the levels of the KDR receptor.
Clinical pictureThis section has been translated automatically.
Diseases associated with MYOF include:
- Hereditary Angioedema Mutation in MYOF (Hereditary Angioedema with Normal C1inh).
LiteratureThis section has been translated automatically.
- Santacroce R et al (2021) The genetics of hereditary angioedema: A review. J Clin Med 10: 2023.
- Veronez CL et al (2021) The Expanding Spectrum of Mutations in Hereditary Angioedema. J Allergy Clin Immunol Pract 9: 2229-2234.
