MYO15A

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Myosin XVA
Identifiers
Symbols MYO15A ; DFNB3; MYO15
External IDs OMIM602666 MGI1261811 HomoloGene56504 GeneCards: MYO15A Gene
RNA expression pattern
PBB GE MYO15A 220288 at tn.png
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
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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