MYO15A
Template:Short description Template:Cs1 config Template:Infobox gene Unconventional 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, nonsyndromic 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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