stereocilin
Última actualización 26 de abril de 2024
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The STRC gene provides instructions for making a protein called stereocilin. This protein is found in the inner ear and is involved in hearing.
Normal function
The STRC gene provides instructions for making a protein called stereocilin. This protein is found in the inner ear and is involved in hearing.
Stereocilin is associated with hairlike structures called stereocilia, which project from specialized cells called hair cells in the inner ear. Stereocilin links the tips of neighboring stereocilia to one another. Stereocilia must be physically connected to carry out certain auditory functions, such as making quiet sounds louder and detecting sound frequency.
Conditions referring to this gene or chromosome
Otros nombres
deafness, autosomal recessive 16
DFNB16
STRC_HUMAN
Lecturas adicionales y referencias
- stereocilin; MedlinePlus, National Library of Medicine.
- 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.
- 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.
- Nishio SY, Usami SI. Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients. Sci Rep. 2022 Jan 12;12(1):634. doi: 10.1038/s41598-021-04688-5.
- Redfield S, Shearer AE. STRC-Related Autosomal Recessive Hearing Loss. 2023 Dec 14. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK598310/
- Verpy E, Masmoudi S, Zwaenepoel I, Leibovici M, Hutchin TP, Del Castillo I, Nouaille S, Blanchard S, Laine 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. doi: 10.1038/ng726.
- Vona B, Hofrichter MA, Neuner C, Schroder 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.
- 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. doi: 10.1136/jmg.2006.045765. Epub 2006 Nov 10.
Historial del artículo
Artículo también disponible en Inglés, Alemán, Español, Francés, Italiano, Portugués, Hindi, Hebreo, Árabe, y Sueco.
26 de abril de 2024 | Última versión
1 Apr 2024 | Publicado originalmente
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