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Gene Review

OTOP1  -  otopetrin 1

Homo sapiens

Synonyms: Otopetrin-1
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High impact information on OTOP1

  • Here we show that tlt and mlh are mutant alleles of a novel gene (Otopetrin 1, Otop1), encoding a multi-transmembrane domain protein that is expressed in the macula of the developing otocyst [1].


  1. Non-syndromic vestibular disorder with otoconial agenesis in tilted/mergulhador mice caused by mutations in otopetrin 1. Hurle, B., Ignatova, E., Massironi, S.M., Mashimo, T., Rios, X., Thalmann, I., Thalmann, R., Ornitz, D.M. Hum. Mol. Genet. (2003) [Pubmed]
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