Gene: MYO15A

Alternate names for this Gene: DFNB3|MYO15

Gene Summary: 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. 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. Read-through transcripts 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17p11.2

Description of this Gene: myosin XVA

Type of Gene: protein-coding

Gene: LOC105371566

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rs121908965 in MYO15A;LOC105371566 gene and Deafness, Autosomal Recessive 3 PMID 9603736 1998 Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

PMID 24926664 2014 Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.

PMID 11735029 2001 Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.

PMID 27734841 2017 A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman.

PMID 22736430 2012 Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population.

rs854775 in MYO15A;LOC105371566 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1555543296 in MYO15A;LOC105371566 gene and Multiple congenital anomalies PMID 25792667 2015 Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis.

PMID 7704031 1995 A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.

PMID 7616538 1995 Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.

PMID 18804553 2009 Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

PMID 26242193 2015 Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing.

PMID 27375115 2016 Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.