Connexin 26: Required for normal auditory function

Philip M. Kelley, Edward Cohn, William J. Kimberling

    Research output: Contribution to journalReview articlepeer-review

    29 Scopus citations

    Abstract

    A single base deletion mutation, 35delG, in the gene (GJB2/DFNB1)(OMIM 121011/220290) encoding the gap junction protein, connexin 26 is the most important single cause of genetic hearing loss in European and American populations. It is the cause of one of the most common human genetic disorders with a frequency similar to cystic fibrosis. Mutations in this connexin are associated with skin disorders. (C) 2000 Elsevier Science B.V.

    Original languageEnglish (US)
    Pages (from-to)184-188
    Number of pages5
    JournalBrain Research Reviews
    Volume32
    Issue number1
    DOIs
    StatePublished - Mar 24 2000

    Keywords

    • Connexin 26
    • Deafness
    • Hearing loss
    • Mutation

    ASJC Scopus subject areas

    • General Neuroscience
    • Clinical Neurology

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