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Genetics Home Reference: your guide to understanding genetic conditions
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STRC

Reviewed February 2016

What is the official name of the STRC gene?

The official name of this gene is “stereocilin.”

STRC is the gene's official symbol. The STRC gene is also known by other names, listed below.

What is the normal function of the STRC gene?

The STRC gene provides instructions for making a protein called stereocilin. This protein is found in the inner ear and appears to be involved in hearing.

Stereocilin is associated with hairlike structures called stereocilia, which project from specialized cells called hair cells in the inner ear. Specifically, stereocilin helps to maintain the structure of stereocilia by linking their tips to one another. Stereocilia bend in response to sound waves, triggering a series of reactions within hair cells that generate a nerve impulse. Such nerve impulses are transmitted via the auditory nerve to the brain, where they are interpreted as sound.

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

nonsyndromic hearing loss - caused by mutations in the STRC gene

Researchers have identified a few STRC gene mutations in individuals with nonsyndromic hearing loss, which is loss of hearing that is not associated with other signs and symptoms. Mutations in this gene cause a form of nonsyndromic hearing loss called DFNB16. This form of hearing loss can either be present before a child learns to speak (prelingual) or begin after a child learns to speak (postlingual). The hearing loss ranges from mild to profound and particularly affects the ability to hear high-frequency sounds.

The STRC gene mutations that cause nonsyndromic hearing loss add a small amount of DNA to the STRC gene or delete DNA from the gene. In many cases, the mutation deletes a piece of chromosome 15 that includes the entire STRC gene. Mutations in this gene lead to the production of a nonfunctional version of stereocilin or prevent any of this protein from being produced. A loss of functional stereocilin likely alters the structure of stereocilia, preventing them from reacting normally to sound waves. As a result, hair cells cannot convert sound into electrical impulses, which leads to hearing loss in people with DFNB16.

sensorineural deafness and male infertility - associated with the STRC gene

Sensorineural deafness and male infertility is a condition caused by a deletion of genetic material on the long (q) arm of chromosome 15. This condition is characterized by the combination of hearing loss and an inability to father children.

The chromosomal region that is typically deleted contains multiple genes, including the STRC gene. People with this condition have the deletion in both copies of chromosome 15 in each cell. As a result of the deletion, affected individuals are missing both copies of the STRC gene, and no stereocilin protein is produced. A lack of stereocilin likely interferes with the normal function of stereocilia and impairs how these structures respond to sound waves, resulting in hearing loss. The loss of another gene, CATSPER2, in the same region of chromosome 15 is responsible for infertility in affected males.

Where is the STRC gene located?

Cytogenetic Location: 15q15.3

Molecular Location on chromosome 15: base pairs 43,599,243 to 43,711,486

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/161497))

The STRC gene is located on the long (q) arm of chromosome 15 at position 15.3.

The STRC gene is located on the long (q) arm of chromosome 15 at position 15.3.

More precisely, the STRC gene is located from base pair 43,599,243 to base pair 43,711,486 on chromosome 15.

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 STRC?

You and your healthcare professional may find the following resources about STRC 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 STRC gene or gene products?

  • deafness, autosomal recessive 16
  • DFNB16
  • STRC_HUMAN

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 STRC?

auditory ; auditory nerve ; autosomal ; autosomal recessive ; cell ; chromosome ; deletion ; DNA ; gene ; hair cells ; infertility ; mutation ; postlingual ; prelingual ; protein ; pseudogene ; recessive ; sensorineural

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References

  • Francey LJ, Conlin LK, Kadesch HE, Clark D, Berrodin D, Sun Y, Glessner J, Hakonarson H, Jalas C, Landau C, Spinner NB, Kenna M, Sagi M, Rehm HL, Krantz ID. Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment. Am J Med Genet A. 2012 Feb;158A(2):298-308. doi: 10.1002/ajmg.a.34391. Epub 2011 Dec 6. (http://www.ncbi.nlm.nih.gov/pubmed/22147502?dopt=Abstract)
  • Mandelker D, Amr SS, Pugh T, Gowrisankar S, Shakhbatyan R, Duffy E, Bowser M, Harrison B, Lafferty K, Mahanta L, Rehm HL, Funke BH. Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology. J Mol Diagn. 2014 Nov;16(6):639-47. doi: 10.1016/j.jmoldx.2014.06.003. Epub 2014 Aug 23. (http://www.ncbi.nlm.nih.gov/pubmed/25157971?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/161497)
  • OMIM: STEREOCILIN (http://omim.org/entry/606440)
  • Verpy E, Masmoudi S, Zwaenepoel I, Leibovici M, Hutchin TP, Del Castillo I, Nouaille S, Blanchard S, Lainé S, Popot JL, Moreno F, Mueller RF, Petit C. Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. Nat Genet. 2001 Nov;29(3):345-9. (http://www.ncbi.nlm.nih.gov/pubmed/11687802?dopt=Abstract)
  • Vona B, Hofrichter MA, Neuner C, Schröder J, Gehrig A, Hennermann JB, Kraus F, Shehata-Dieler W, Klopocki E, Nanda I, Haaf T. DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics. Clin Genet. 2015;87(1):49-55. doi: 10.1111/cge.12332. Epub 2014 Jan 21. (http://www.ncbi.nlm.nih.gov/pubmed/26011646?dopt=Abstract)
  • Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Lohr NJ, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H, Smith RJ. Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. J Med Genet. 2007 Apr;44(4):233-40. Epub 2006 Nov 10. Erratum in: J Med Genet. 2007 Aug;44(8):544. Lohr, Naomi J [added]. (http://www.ncbi.nlm.nih.gov/pubmed/17098888?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: February 2016
Published: February 1, 2016