STRC

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Stereocilin
Identifiers
Symbol(s) STRC; DFNB16; MGC156147
External IDs OMIM: 606440 MGI: 2153816 HomoloGene: 15401
Orthologs
Human Mouse
Entrez 161497 140476
Ensembl n/a ENSMUSG00000033498
Uniprot n/a Q3UMD0
Refseq NM_153700 (mRNA)
NP_714544 (protein)		 NM_080459 (mRNA)
NP_536707 (protein)
Location n/a Chr 2: 121.06 - 121.07 Mb
Pubmed search [1] [2]

Stereocilin, also known as STRC, is a human gene.[1]

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.[1]

[edit] References

  1. ^ a b Entrez Gene: STRC stereocilin.

[edit] Further reading

  • Bitner-Glindzicz M (2002). "Hereditary deafness and phenotyping in humans.". Br. Med. Bull. 63: 73–94. 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. doi:10.1073/pnas.242603899. 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. PMID 12445334. 
  • Verpy E, Masmoudi S, Zwaenepoel I, et al. (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. 
  • 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. PMID 10090914. 
  • Campbell DA, McHale DP, Brown KA, et al. (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. PMID 9429146. 
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