MYO15A

This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined. [provided by RefSeq]

Full Name

myosin XVA

Function

Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. Required for the arrangement of stereocilia in mature hair bundles (By similarity).

Biological Process

Actin filament organization Source: GO_Central
Inner ear morphogenesis Source: Ensembl
Locomotory behavior Source: Ensembl
Response to light stimulus Source: Ensembl
Sensory perception of sound Source: ProtInc
Vesicle transport along actin filament Source: GO_Central

Cellular Location

Cytoskeleton
Other locations
stereocilium
Note: Localizes to stereocilium tips in cochlear and vestibular hair cells.

Involvement in disease

Deafness, autosomal recessive, 3 (DFNB3):
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.