| Home Page |
| References | OMIM | Gene | GeneReviews | HGMD | HGNC |
| GENATLAS PHENOTYPE |
| last update : 02-07-2010 |
| Symbol | LQT11 |
| Location | 7q21.2 |
| Name | long QT syndrome with ventricular tachyarrhythmia, type 11 |
| Corresponding gene | AKAP9 |
| Main clinical features | predisposing to torsades de pointes and ventricular fibrillation |
| Genetic determination | not applicable |
| Function/system disorder | cardiovascular |
| Type | disease |
| Mechanism(s) |
| Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|
| abnormal protein/loss of function
| (S1570L) disrupting binding with KCNQ1, reducing PKA phosphorylation of KCNQ1, eliminating the response of KCNQ1 to cAMP, and prolonging the action potential in computational models of the ventricular myocyte
| |
| Remark(s) |