Myosin-XV (MYO15A)

Myosin-XV (MYO15A) is a very large unconventional myosin motor protein essential for the proper organization, elongation, and maintenance of actin-rich stereocilia in the inner ear hair cells, which are specialized organelles required for mechanotransduction—the process of converting sound vibrations into electrical signals for hearing. MYO15A has a unique, large N-terminal extension, an ATPase motor domain, IQ repeat domains, and a C-terminal tail containing specialized domains (MyTH4, FERM, SH3, PDZ ligand). It forms complexes with proteins such as whirlin and EPS8 to organize and stabilize the structure and function of stereocilia. Mutations in MYO15A cause DFNB3, a form of severe to profound autosomal recessive nonsyndromic deafness, by disrupting stereocilia assembly and/or maintenance. Mouse models and genetic studies in humans have extensively characterized both the gene and its functional consequences. MYO15A is not currently considered a direct drug target, but is a significant genetic biomarker for hereditary hearing loss[1][2][3].

Other names

Unconventional myosin-XVMYO15Unconventional myosin-15DFNB3Myosin 15Myosin XVa