Article
Identification of Kv11.1 isoform switch as a novel pathogenic mechanism of long-QT syndrome.
Circulation. Cardiovascular genetics - 1 Aug 2014
Gong Qiuming, Stump Matthew R, Deng Vivianne, Zhang Li, Zhou Zhengfeng
Abstract excerpt
BACKGROUND: The KCNH2 gene encodes the Kv11.1 potassium channel that conducts the rapidly activating delayed rectifier current in the heart. The relative expression of the full-length Kv11.1a isoform and the C-terminally truncated Kv11.1a-USO isoform plays an important role in regulation of channel function. The formation of C-terminal isoforms is determined by competition between the splicing and alternative...
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