MYO15A


Description

The MYO15A (myosin XVA) is a protein-coding gene located on chromosome 17.

MYO15A is a gene that encodes unconventional myosin-XV, a protein vital for hearing. It has a unique structure with a long extension preceding the motor domain. Mutations in MYO15A are linked to profound, congenital, non-syndromic deafness. This gene resides within the Smith-Magenis syndrome region on chromosome 17. Several splice variants exist, but their full sequences are unknown.

Myosins are motor proteins that use ATP to move along actin filaments. Unconventional myosins, like MYO15A, are involved in intracellular transport. MYO15A's unique tail structure likely helps it bind to membrane compartments, enabling movement relative to actin. It plays a crucial role in the organization of stereocilia within mature hair bundles, ensuring proper hearing.

MYO15A is also known as DFNB3, MYO15.

Associated Diseases


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