Impaired cytoplasmic domain interactions cause co-assembly defect and loss of function in the p.Glu293Lys KNCJ2 variant isolated from an Andersen-Tawil syndrome patient.

Impaired cytoplasmic domain interactions cause co-assembly defect and loss of function in the p.Glu293Lys KNCJ2 variant isolated from an Andersen-Tawil syndrome patient. Cardiovasc Res. 2021 07 07; 117(8):1923-1934.

View in: PubMed

subject areas

Andersen Syndrome
Animals
Child
CHO Cells
Cricetulus
Female
Genetic Predisposition to Disease
HEK293 Cells
Humans
Ion Channel Gating
Loss of Function Mutation
Mice
Models, Molecular
Phenotype
Potassium Channels, Inwardly Rectifying
Protein Interaction Domains and Motifs
Protein Multimerization
Protein Structure, Quaternary
Structure-Activity Relationship

authors with profiles

Alain J. Labro