Biology:STRC
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 Generic protein structure example |
Stereocilin is a protein that in humans is encoded by the STRC gene.[1][2][3]
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.[3]
References
- ↑ "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. Nov 2001. doi:10.1038/ng726. PMID 11687802.
- ↑ "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. Feb 1998. doi:10.1136/jmg.34.12.1015. PMID 9429146.
- ↑ 3.0 3.1 "Entrez Gene: STRC stereocilin". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=161497.
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.
- "Analysis of the DNA sequence and duplication history of human chromosome 15.". Nature 440 (7084): 671–5. 2006. doi:10.1038/nature04601. PMID 16572171.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "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. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Sequence similarity between stereocilin and otoancorin points to a unified mechanism for mechanotransduction in the mammalian inner ear.". BMC Cell Biol. 3: 28. 2003. doi:10.1186/1471-2121-3-28. PMID 12445334.
- "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. 2000. doi:10.1086/302321. PMID 10090914.
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