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Gene Review

CLRN1  -  clarin 1

Homo sapiens

Synonyms: Clarin-1, RP61, USH3, USH3A, Usher syndrome type-3 protein
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Disease relevance of CLRN1


High impact information on CLRN1

  • Because the previously defined transcripts do not account for all USH3 cases, we performed further analysis and revealed the presence of additional exons embedded in longer human and mouse USH3A transcripts and three novel USH3A mutations [4].


  1. Serial audiometry and speech recognition findings in Finnish Usher syndrome type III patients. Plantinga, R.F., Kleemola, L., Huygen, P.L., Joensuu, T., Sankila, E.M., Pennings, R.J., Cremers, C.W. Audiol. Neurootol. (2005) [Pubmed]
  2. Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Joensuu, T., Hämäläinen, R., Yuan, B., Johnson, C., Tegelberg, S., Gasparini, P., Zelante, L., Pirvola, U., Pakarinen, L., Lehesjoki, A.E., de la Chapelle, A., Sankila, E.M. Am. J. Hum. Genet. (2001) [Pubmed]
  3. A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q. Joensuu, T., Hämäläinen, R., Lehesjoki, A.E., de la Chapelle, A., Sankila, E.M. Genomics (2000) [Pubmed]
  4. USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. Adato, A., Vreugde, S., Joensuu, T., Avidan, N., Hamalainen, R., Belenkiy, O., Olender, T., Bonne-Tamir, B., Ben-Asher, E., Espinos, C., Millán, J.M., Lehesjoki, A.E., Flannery, J.G., Avraham, K.B., Pietrokovski, S., Sankila, E.M., Beckmann, J.S., Lancet, D. Eur. J. Hum. Genet. (2002) [Pubmed]
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