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The official name of this gene is “myosin XVA.”
MYO15A is the gene's official symbol. The MYO15A gene is also known by other names, listed below.
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. [provided by RefSeq, Jul 2008]
Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. Required for the arrangement of stereocilia in mature hair bundles.
NOTE: UniProt (MYO15_HUMAN) (http://www.uniprot.org/uniprot/Q9UKN7) suggests using caution when interpreting this information.
Deafness, autosomal recessive, 3 (DFNB3): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by mutations affecting the gene represented in this entry.
|600316 (http://omim.org/entry/600316)||DEAFNESS, AUTOSOMAL RECESSIVE 3|
|602666 (http://omim.org/entry/602666)||MYOSIN XVA|
Cytogenetic Location: 17p11.2
Molecular Location on chromosome 17: base pairs 18,108,706 to 18,180,225
The MYO15A gene is located on the short (p) arm of chromosome 17 at position 11.2.
More precisely, the MYO15A gene is located from base pair 18,108,706 to base pair 18,180,225 on chromosome 17.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about MYO15A helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
actin ; autosomal ; autosomal recessive ; chromosome ; cochlea ; congenital ; domain ; gene ; hair cells ; intracellular ; motor ; myosin ; protein ; recessive ; sensorineural ; sensorineural hearing loss ; syndrome ; transcript
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.