MYO15A
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Myosin XVA | |||||||||||||
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Identifiers | |||||||||||||
Symbols | MYO15A ; DFNB3; MYO15 | ||||||||||||
External IDs | OMIM: 602666 MGI: 1261811 HomoloGene: 56504 GeneCards: MYO15A Gene | ||||||||||||
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RNA expression pattern | |||||||||||||
More reference expression data | |||||||||||||
Orthologs | |||||||||||||
Species | Human | Mouse | |||||||||||
Entrez | 51168 | 17910 | |||||||||||
Ensembl | ENSG00000091536 | ENSMUSG00000042678 | |||||||||||
UniProt | Q9UKN7 | Q9QZZ4 | |||||||||||
RefSeq (mRNA) | NM_016239 | NM_001103171 | |||||||||||
RefSeq (protein) | NP_057323 | NP_001096641 | |||||||||||
Location (UCSC) | Chr 17: 18.11 – 18.18 Mb |
Chr 11: 60.47 – 60.53 Mb |
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PubMed search | [1] | [2] | |||||||||||
Myosin-XV is a protein that in humans is encoded by the MYO15A gene.[1][2]
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.[2]
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.[2]
Clinical significance
Mutations in this gene have been associated with profound, congenital, neurosensory, non syndromic deafness .[3] This gene is located within the Smith-Magenis syndrome region on chromosome 17.[2]
References
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Further reading
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