| Specifications | |
|---|---|
| Organ System | Cardiovascular System |
| Disease | LQT2 |
| Target Gene | KCNH2 |
| Gene Function | KCNH2, also known as human Ether-a-go-go Related Gene and HERG, forms the α-subunit of the rapid-acting inward rectifying potassium (Ikr) channel. |
| Mutation | A561P |
| Phenotype | Reduced IKs, prolonged action potential duration (APD), trafficking defect |
| Source | Fibroblasts |
| Cellular Assays | Whole-cell patch clamp techniques |
For Research Use Only. Not For Clinical Use.
