MYO15A | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | MYO15A, DFNB3, MYO15, myosin XVA | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 602666; MGI: 1261811; HomoloGene: 56504; GeneCards: MYO15A; OMA:MYO15A - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Myosin-XV is a protein that in humans is encoded by the MYO15A gene.[5][6]
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.[6]
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.[6]
Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromic deafness.[7] This gene is located within the Smith–Magenis syndrome region on chromosome 17.[6]
Proteins of the cytoskeleton
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Human |
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Nonhuman |
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See also: cytoskeletal defects |
This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it. |