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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Gene: LOC105371567
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rs121908969 in
MYO15A;LOC105371566;LOC105371567 gene and
Deafness, Autosomal Recessive 3
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 9603736 1998 Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.
PMID 21917145 2011 Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families.
PMID 23767834 2013 Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.