Article
An atrial-fibrillation-linked connexin40 mutant is retained in the endoplasmic reticulum and impairs the function of atrial gap-junction channels.
Disease models & mechanisms - 1 May 2014
Sun Yiguo, Tong Xiaoling, Chen Honghong, Huang Tao, Shao Qing, Huang Weixiong, Laird Dale W, Bai Donglin
Abstract excerpt
Connexin40 (Cx40)-containing gap-junction channels are expressed in the atrial myocardium and provide a low-resistance passage for rapid impulse propagation. A germline mutation in the GJA5 gene, which encodes Cx40, resulting in a truncated Cx40 (Q49X) was identified in a large Chinese family with lone (idiopathic) atrial fibrillation (AF). This mutation co-segregated with seven AF probands in an...
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