Article
The mutation L69P in the PAS domain of the hERG potassium channel results in LQTS by trafficking deficiency.
Channels (Austin, Tex.) - 1 Dec 2020
Jenewein Tina, Kanner Scott A, Bauer Daniel, Hertel Brigitte, Colecraft Henry M, Moroni Anna, Thiel Gerhard, Kauferstein Silke
Abstract excerpt
The congenital long QT syndrome (LQTS) is a cardiac disorder characterized by a prolonged QT interval on the electrocardiogram and an increased susceptibility to ventricular arrhythmias and sudden cardiac death. A frequent cause for LQTS is mutations in the KCNH2 gene (also known as the human ether-a-go-go-related gene or hERG), which reduce or modulate the potassium current IKr and hence alter cardiac...
Topics
- Adult
- ERG1 Potassium Channel
- Female
- Flow Cytometry
- Humans
- Long QT Syndrome
- Microscopy, Confocal
- Mutation
- Protein Transport