Article
Defective human Ether-à-go-go-related gene trafficking linked to an endoplasmic reticulum retention signal in the C terminus.
The Journal of biological chemistry - 26 Jul 2002
Kupershmidt Sabina, Yang Tao, Chanthaphaychith Siprachanh, Wang Zhiqing, Towbin Jeffrey A, Roden Dan M
Abstract excerpt
Mutations in the human Ether-à-go-go-Related gene (HERG), encoding the protein underlying the cardiac K(+) current, I(Kr), cause chromosome 7-linked long QT syndrome (LQT2). In this study, we show that deletion of the C-terminal 147 amino acids (HERG(Delta147)) abolished I(Kr), whereas a larger, 159-amino acid deletion (HERG(Delta159)) identified in an LQT2 kindred did generate I(Kr), albeit with reduced...
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