期刊
BIOCHEMICAL JOURNAL
卷 438, 期 -, 页码 245-254出版社
PORTLAND PRESS LTD
DOI: 10.1042/BJ20110278
关键词
connexin; gap junction; hearing; keratinocyte; skin
资金
- The Wellcome Trust
- Barts
- London Charity
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 beta-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.
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