Aliases for MYOF Gene
External Ids for MYOF Gene
Previous HGNC Symbols for MYOF Gene
Previous GeneCards Identifiers for MYOF Gene
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. [provided by RefSeq, Dec 2008]
GeneCards Summary for MYOF Gene
MYOF (Myoferlin) is a Protein Coding gene. Diseases associated with MYOF include Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2B and Deafness, Autosomal Recessive 9. Among its related pathways are Aryl Hydrocarbon Receptor Pathway and Hepatitis C and Hepatocellular Carcinoma. Gene Ontology (GO) annotations related to this gene include phospholipid binding. An important paralog of this gene is DYSF.
UniProtKB/Swiss-Prot Summary for MYOF Gene
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).