Key functions for gap junctions in skin and hearing.
Key functions for gap junctions in skin and hearing.
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DOI：
10.1042/bj20110278
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发表时间：
2011-09
期刊：
影响因子：
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通讯作者：
C. Scott;D. Kelsell
中科院分区：
文献类型：
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作者：
C. Scott;D. Kelsell
Cx（连接蛋白）蛋白是间隙连接的组分，间隙连接是允许离子和小分子在细胞间交换的水性孔。Cx基因的突变与一系列人类疾病有关。本文就β-Cx基因Cx 26、Cx 30、Cx30.3和Cx 31突变与皮肤病和耳聋的关系作一综述。Cx蛋白的功能研究已经深入了解了Cx蛋白的疾病相关机制和非间隙连接作用。
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.