KCNH2 Gene
The KCNH2 gene belongs to a large family of genes that provide instructions for making potassium channels. These channels, which transport positively charged atoms of potassium out of cells, play key roles in a cell’s ability to generate and transmit electrical signals. Channels made with KCNH2 proteins, also known as hERG1, are active in cardiac muscles and are involved in recharging the cardiac muscle after each heartbeat to maintain a regular rhythm. A de novo mutation 2587T→C in exon 10 of KCNH2 is associated with Long QT Syndrome 2.
