MYO15A

Myosin-XV is a is_associated_with::protein that in humans is encoded by the MYO15A is_associated_with::gene.

Gene
Read-through transcript containing an upstream gene and this gene have been identified, but they are not thought to encode a is_associated_with::fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined.

Function
This gene encodes an unconventional is_associated_with::myosin. This protein differs from other myosins in that it has a long is_associated_with::N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for is_associated_with::actin organization in the hair cells of the is_associated_with::cochlea.

Clinical significance
Mutations in this gene have been associated with profound, congenital, neurosensory, non syndromic deafness. This gene is located within the is_associated_with::Smith-Magenis syndrome region on chromosome 17.