| Literature DB >> 21834795 |
Claire A Scott1, David P Kelsell.
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.Entities:
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Year: 2011 PMID: 21834795 DOI: 10.1042/BJ20110278
Source DB: PubMed Journal: Biochem J ISSN: 0264-6021 Impact factor: 3.857