title: Key functions for gap junctions in skin and hearing.
abstract: Cx (connexin) proteins are components of gap junctions which are aqueous pores that allow intercellular exchange of ions and small molecules. Mutations in Cx genes are linked to a range of human disorders. In the present review we discuss mutations in β-Cx genes encoding Cx26, Cx30, Cx30.3 and Cx31 which lead to skin disease and deafness. Functional studies with Cx proteins have given insights into disease-associated mechanisms and non-gap junctional roles for Cx proteins.
authors.affiliation: Centre for Cutaneous Research, The Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, UK.
authors.forename: Claire A
authors.initials: CA
authors.lastname: Scott
authors.forename: David P
authors.initials: DP
authors.lastname: Kelsell
mesh_terms: D000072259:Connexin 26; D017630:Connexins / Q000737:chemistry / Q000235:genetics; D004194:Disease / Q000235:genetics; D017629:Gap Junctions / Q000378:metabolism*; D006309:Hearing; D034381:Hearing Loss / Q000378:metabolism*; D006801:Humans; D009154:Mutation / Q000235:genetics; D012867:Skin / Q000378:metabolism*
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26