STRC
Stereocilin is a protein that in humans is encoded by the STRC gene.[5][6][7]
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| Aliases | STRC, DFNB16, stereocilin | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 606440 MGI: 2153816 HomoloGene: 15401 GeneCards: STRC | ||||||||||||||||||||||||||||||||||||||||||||||||||
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This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness.[7]
References
- GRCh38: Ensembl release 89: ENSG00000242866 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000033498 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- 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 (Nov 2001). "Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus". Nat Genet. 29 (3): 345–9. doi:10.1038/ng726. PMID 11687802. S2CID 23062750.
- Campbell DA, McHale DP, Brown KA, Moynihan LM, Houseman M, Karbani G, Parry G, Janjua AH, Newton V, al-Gazali L, Markham AF, Lench NJ, Mueller RF (Feb 1998). "A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22". J Med Genet. 34 (12): 1015–7. doi:10.1136/jmg.34.12.1015. PMC 1051155. PMID 9429146.
- "Entrez Gene: STRC stereocilin".
Further reading
- Bitner-Glindzicz M (2002). "Hereditary deafness and phenotyping in humans". Br. Med. Bull. 63: 73–94. doi:10.1093/bmb/63.1.73. PMID 12324385.
- Zody MC, Garber M, Sharpe T, et al. (2006). "Analysis of the DNA sequence and duplication history of human chromosome 15". Nature. 440 (7084): 671–5. doi:10.1038/nature04601. PMID 16572171.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Jovine L, Park J, Wassarman PM (2003). "Sequence similarity between stereocilin and otoancorin points to a unified mechanism for mechanotransduction in the mammalian inner ear". BMC Cell Biol. 3: 28. doi:10.1186/1471-2121-3-28. PMC 139993. PMID 12445334.
- Villamar M, del Castillo I, Valle N, et al. (2000). "Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132". Am. J. Hum. Genet. 64 (4): 1238–41. doi:10.1086/302321. PMC 1377853. PMID 10090914.
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