Species Human Entrez 51168 | Human Mouse Ensembl ENSG00000091536 | |
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Aliases MYO15A, DFNB3, MYO15, myosin XVA External IDs MGI: 1261811 HomoloGene: 56504 GeneCards: MYO15A | ||
Myosin-XV is a protein that in humans is encoded by the MYO15A gene.
Contents
Gene
Read-through transcript 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.
Function
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.
Clinical significance
Mutations in this gene have been associated with profound, congenital, neurosensory, non syndromic deafness . This gene is located within the Smith-Magenis syndrome region on chromosome 17.