MYOF


Description

The MYOF (myoferlin) is a protein-coding gene located on chromosome 10.

Myoferlin is a protein encoded by the MYOF gene in humans. It is structurally similar to dysferlin, another protein associated with the plasma membrane, and is a type II membrane protein belonging to the ferlin family. Myoferlin associates with both plasma and nuclear membranes. It contains C2 domains, which play a role in calcium-mediated membrane fusion events, suggesting involvement in membrane regeneration and repair. It also contains a FerA domain, which interacts with the membrane, contributing to myoferlin's membrane interaction mechanism. Myoferlin is overexpressed in various cancers, particularly pancreas and triple-negative breast cancer. Overexpression is linked to proliferation, migration, and invasion of cancer cells, and silencing myoferlin's gene in triple-negative breast cancer significantly reduces tumor growth and metastatic progression. Two transcript variants encoding different isoforms have been found for this gene.

MYOF is also known as FER1L3, HAE7.

Associated Diseases



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