- STRC
Stereocilin, also known as STRC, is a human
gene .cite web | title = Entrez Gene: STRC stereocilin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=161497| accessdate = ]PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: STRC stereocilin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=161497| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Bitner-Glindzicz M |title=Hereditary deafness and phenotyping in humans. |journal=Br. Med. Bull. |volume=63 |issue= |pages= 73–94 |year= 2002 |pmid= 12324385 |doi=
*cite journal | author=Zody MC, Garber M, Sharpe T, "et al." |title=Analysis of the DNA sequence and duplication history of human chromosome 15. |journal=Nature |volume=440 |issue= 7084 |pages= 671–5 |year= 2006 |pmid= 16572171 |doi= 10.1038/nature04601
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Jovine L, Park J, Wassarman PM |title=Sequence similarity between stereocilin and otoancorin points to a unified mechanism for mechanotransduction in the mammalian inner ear. |journal=BMC Cell Biol. |volume=3 |issue= |pages= 28 |year= 2003 |pmid= 12445334 |doi=
*cite journal | author=Verpy E, Masmoudi S, Zwaenepoel I, "et al." |title=Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. |journal=Nat. Genet. |volume=29 |issue= 3 |pages= 345–9 |year= 2001 |pmid= 11687802 |doi= 10.1038/ng726
*cite journal | author=Villamar M, del Castillo I, Valle N, "et al." |title=Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132. |journal=Am. J. Hum. Genet. |volume=64 |issue= 4 |pages= 1238–41 |year= 2000 |pmid= 10090914 |doi=
*cite journal | author=Campbell DA, McHale DP, Brown KA, "et al." |title=A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22. |journal=J. Med. Genet. |volume=34 |issue= 12 |pages= 1015–7 |year= 1998 |pmid= 9429146 |doi=PBB_Controls
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