KCNQ1 (Potassium Voltage-Gated Channel Subfamily Q Member 1) encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in KCNQ1 are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. KCNQ1 exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. KCNQ1 is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for KCNQ1.

Optimal working dilutions should be determined experimentally by the investigator. Suggested starting dilutions are as follows: WB 1:500-2000 ELISA 1:5000-20000.

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