| Product Name | Human KCNQ1 Recombinant Protein |
|---|---|
| Species Reactivity | Human |
| Gene Symbol | KCNQ1 |
| Gene Synonyms | LQT RWS WRS LQT1 SQT2 ATFB1 ATFB3 JLNS1 KCNA8 KCNA9 Kv1.9 Kv7.1 KVLQT1 |
| Gene Full Name | potassium voltage-gated channel subfamily Q member 1 |
| Gene Summary | This gene 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 this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene 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 this gene. [provided by RefSeq, Aug 2011] |
