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Genetics Home Reference: your guide to understanding genetic conditions
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MYO15A

Reviewed November 2006

What is the official name of the MYO15A gene?

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.

What is the normal function of the MYO15A gene?

The MYO15A gene provides instructions for making a protein called myosin XVA, which is part of a group of proteins called unconventional myosins. These proteins, which have similar structures, each play a role in transporting molecules within cells. Myosins interact with actin, a protein that is important for cell movement and shape. Researchers believe that myosins use long filaments of actin as tracks along which to transport other molecules.

Myosin XVA is made in the inner ear, the pituitary gland (a structure at the base of the brain that makes several hormones), and other tissues. It appears to be essential for normal hearing. In the inner ear, myosin XVA plays a role in the development and maintenance of hairlike projections called stereocilia. Stereocilia, which are rich in actin, line the inner ear and bend in response to sound waves. This bending motion is critical for converting sound waves to nerve impulses.

One function of myosin XVA is to carry a protein called whirlin to its normal location at the tips of stereocilia. Both proteins are essential for building these structures.

Does the MYO15A gene share characteristics with other genes?

The MYO15A gene belongs to a family of genes called myosins (myosins).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the MYO15A gene related to health conditions?

nonsyndromic deafness - caused by mutations in the MYO15A gene

At least seven mutations in the MYO15A gene have been identified in families with a form of nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body) called DFNB3. Most of these genetic changes alter a single protein building block (amino acid) in critical regions of the myosin XVA protein. MYO15A mutations disrupt the usual function of myosin XVA or cause an abnormally short, nonfunctional version of the protein to be made. Altering the function of myosin XVA disrupts the structure and organization of stereocilia, leading to hearing loss.

Where is the MYO15A gene located?

Cytogenetic Location: 17p11.2

Molecular Location on chromosome 17: base pairs 18,108,705 to 18,179,801

The MYO15A gene is located on the short (p) arm of chromosome 17 at position 11.2.

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 18,108,705 to base pair 18,179,801 on chromosome 17.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about MYO15A?

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.

What other names do people use for the MYO15A gene or gene products?

  • DFNB3
  • MYO15
  • MYO15_HUMAN
  • myosin XV
  • unconventional myosin-15

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding MYO15A?

actin ; amino acid ; autosomal ; autosomal recessive ; cell ; gene ; myosin ; pituitary gland ; protein ; recessive

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Anderson DW, Probst FJ, Belyantseva IA, Fridell RA, Beyer L, Martin DM, Wu D, Kachar B, Friedman TB, Raphael Y, Camper SA. The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells. Hum Mol Genet. 2000 Jul 22;9(12):1729-38. (http://www.ncbi.nlm.nih.gov/pubmed/10915760?dopt=Abstract)
  • Belyantseva IA, Boger ET, Friedman TB. Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):13958-63. Epub 2003 Nov 10. (http://www.ncbi.nlm.nih.gov/pubmed/14610277?dopt=Abstract)
  • Delprat B, Michel V, Goodyear R, Yamasaki Y, Michalski N, El-Amraoui A, Perfettini I, Legrain P, Richardson G, Hardelin JP, Petit C. Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly. Hum Mol Genet. 2005 Feb 1;14(3):401-10. Epub 2004 Dec 8. (http://www.ncbi.nlm.nih.gov/pubmed/15590698?dopt=Abstract)
  • Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, Riazuddin S, Liang Y, Menon PS, Smith T, Smith AC, Chen KS, Lupski JR, Wilcox ER, Potocki L, Friedman TB. Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. Hum Genet. 2001 Nov;109(5):535-41. Epub 2001 Oct 3. (http://www.ncbi.nlm.nih.gov/pubmed/11735029?dopt=Abstract)
  • Lin HW, Schneider ME, Kachar B. When size matters: the dynamic regulation of stereocilia lengths. Curr Opin Cell Biol. 2005 Feb;17(1):55-61. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15661519?dopt=Abstract)
  • Lloyd RV, Vidal S, Jin L, Zhang S, Kovacs K, Horvath E, Scheithauer BW, Boger ET, Fridell RA, Friedman TB. Myosin XVA expression in the pituitary and in other neuroendocrine tissues and tumors. Am J Pathol. 2001 Oct;159(4):1375-82. (http://www.ncbi.nlm.nih.gov/pubmed/11583965?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/51168)
  • Steel KP, Brown SD. More deafness genes. Science. 1998 May 29;280(5368):1403. (http://www.ncbi.nlm.nih.gov/pubmed/9634418?dopt=Abstract)
  • Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, Morton CC, Morell RJ, Noben-Trauth K, Camper SA, Friedman TB. Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Science. 1998 May 29;280(5368):1447-51. (http://www.ncbi.nlm.nih.gov/pubmed/9603736?dopt=Abstract)

 

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.

 
Reviewed: November 2006
Published: August 18, 2014