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Myo15a

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Subject: Nonsyndromic deafness, Chromosome 17 (human)
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Myo15a

Myosin XVA
Identifiers
MYO15A Gene
RNA expression pattern

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, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17.[2]

References

Further reading

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