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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

OTOA  -  otoancorin

Homo sapiens

Synonyms: CT108, DFNB22, Otoancorin
 
 
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High impact information on OTOA

  • Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22 [1].
  • Four families harboured four novel alleles of TMPRSS3 (988DeltaA = 352stop), otoancorin (1067A > T = D356V) and pendrin (716T > A = V239D and 1001G > T = 346stop) [2].
  • HYPOTHESIS: We report that the inner ear protein stereocilin is related in sequence to otoancorin and, based on its localisation and predicted GPI-anchoring, may mediate attachment of the tectorial and otoconial membranes to sensory hair bundles [3].
 

Other interactions of OTOA

References

  1. Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22. Zwaenepoel, I., Mustapha, M., Leibovici, M., Verpy, E., Goodyear, R., Liu, X.Z., Nouaille, S., Nance, W.E., Kanaan, M., Avraham, K.B., Tekaia, F., Loiselet, J., Lathrop, M., Richardson, G., Petit, C. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  2. Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population. Walsh, T., Abu Rayan, A., Abu Sa'ed, J., Shahin, H., Shepshelovich, J., Lee, M.K., Hirschberg, K., Tekin, M., Salhab, W., Avraham, K.B., King, M.C., Kanaan, M. Human genomics. (2006) [Pubmed]
  3. Sequence similarity between stereocilin and otoancorin points to a unified mechanism for mechanotransduction in the mammalian inner ear. Jovine, L., Park, J., Wassarman, P.M. BMC Cell Biol. (2002) [Pubmed]
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