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Letter
Nature Cell Biology 7, 63–69 (1 January 2005) | doi:10.1038/ncb1205
Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness
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Abstract
Connexins are membrane proteins that assemble into gap-junction channels and are responsible for direct, electrical and metabolic coupling between connected cells. Here we describe an investigation of the properties of a recombinantly expressed recessive mutant of connexin 26 (Cx26), the V84L mutant, associated with deafness.
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