Gene: LOC105371566

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs865923 in LOC105371566;MYO15A gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs854765 in LOC105371566;MYO15A gene and Bone Density PMID 29304378 2018 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.

rs117071200 in LOC105371566;MYO15A gene and Deafness, Autosomal Recessive 3 PMID 23967202 2013 Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.

PMID 25792667 2015 Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis.

PMID 9603736 1998 Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

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

PMID 23767834 2013 Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.

PMID 27870113 2016 Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil.

PMID 20642360 2010 Recurrent and private MYO15A mutations are associated with deafness in the Turkish population.

PMID 23208854 2013 A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing.

PMID 24875298 2014 Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.

PMID 24123792 2013 A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.

PMID 30828794 2019 Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees.

PMID 17546645 2007 Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.

rs865923 in LOC105371566;MYO15A gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.