Article
A mutation in the cardiac KV7.1 channel possibly disrupts interaction with Yotiao protein.
Biochemical and biophysical research communications - 25 Jun 2024
Li Bowen, Karlova Maria, Zhang Han, Pustovit Oksana B, Mai Lisha, Novoseletsky Valery, Podolyak Dmitry, Zaklyazminskaya Elena V, Abramochkin Denis V, Sokolova Olga S
Abstract excerpt
Here, we characterized the p.Arg583His (R583H) Kv7.1 mutation, identified in two unrelated families suffered from LQT syndrome. This mutation is located in the HС-HD linker of the cytoplasmic portion of the Kv7.1 channel. This linker, together with HD helix are responsible for binding the A-kinase anchoring protein 9 (AKAP9), Yotiao. We studied the electrophysiological characteristics of the mutated channel...
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