Key functions for gap junctions in skin and hearing

被引：40
作者：
Scott, Claire A. [1 ]
Kelsell, David P. [1 ]
机构：
[1] Queen Mary Univ London, Ctr Cutaneous Res, Blizard Inst, Barts & London Sch Med & Dent, London E1 2AT, England
来源：
BIOCHEMICAL JOURNAL | 2011年 / 438卷
基金：
英国惠康基金;
关键词：
connexin; gap junction; hearing; keratinocyte; skin; 26 GENE GJB2; DENTO-DIGITAL DYSPLASIA; CELL-DEATH; ERYTHROKERATODERMIA-VARIABILIS; MISSENSE MUTATION; CONNEXIN EXPRESSION; PALMOPLANTAR KERATODERMA; DIFFERENTIAL EXPRESSION; MUTILATING KERATODERMA; SENSORINEURAL DEAFNESS;
D O I：
10.1042/BJ20110278
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
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.
引用
收藏
页码：245 / 254
页数：10
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