Article
A590T mutation in KCNQ1 C-terminal helix D decreases IKs channel trafficking and function but not Yotiao interaction.
Journal of molecular and cellular cardiology - 1 Jul 2014
Kinoshita Koshi, Komatsu Takuto, Nishide Kohki, Hata Yukiko, Hisajima Nozomi, Takahashi Hiroyuki, Kimoto Katsuya, Aonuma Kei, Tsushima Eikichi, Tabata Toshihide, Yoshida Tomoyuki, Mori Hisashi, Nishida Kunihiro, Yamaguchi Yoshiaki, Ichida Fukiko, Fukurotani Kenkichi, Inoue Hiroshi, Nishida Naoki
Abstract excerpt
KCNQ1 encodes the α subunit of the voltage-gated channel that mediates the cardiac slow delayed rectifier K(+) current (IKs). Here, we report a KCNQ1 allele encoding an A590T mutation [KCNQ1(A590T)] found in a 39-year-old female with a mild QT prolongation. A590 is located in the C-terminal α helical region of KCNQ1 that mediates subunit tetramerization, membrane trafficking, and interaction with Yotiao. This...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.