Article
Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 May 2004
Skerrett I M, Di W-L, Kasperek E M, Kelsell D P, Nicholson B J
Abstract excerpt
Mutations in the gene GJB2, encoding the gap junction protein Connexin26 (Cx26), are the most prevalent cause of inherited hearing loss, and Cx26M34T was one of the first mutations linked to deafness (Kelsell et al., 1997; Nature 387, 80-83). We report the first characterization of the gating properties of M34T, which had previously been reported to be nonfunctional. Although homotypic mutant channels did not...
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