GENETIC ENCYCLOPEDIA
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gene: KCNQ1

id3784
symbolKCNQ1
organismHomo sapiens
full namepotassium voltage-gated channel subfamily Q member 1
summaryThis 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]
variant-disease

NM_181798.1(KCNQ1):c.232G>A (p.Val78Met) AND Long QT syndrome 1

NM_181798.1(KCNQ1):c.238G>A (p.Val80Met) AND not specified

NM_181798.1(KCNQ1):c.244T>C (p.Ser82Pro) AND Atrial fibrillation, familial, 3

NM_181798.1(KCNQ1):c.797A>T (p.Lys266Met) AND not provided

NM_181798.1(KCNQ1):c.439A>G (p.Ile147Val) AND not specified

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