KCNQ1 Gene
The KCNQ1 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 KCNQ1 proteins are primarily found in the inner ear and in cardiac muscles. In general, heterozygous mutations in KCNQ1 cause Romano-Ward syndrome (LQT1 only), while homozygous mutations cause JLNS (LQT1 and deafness).
