靶标:
KCNQ1
产品别名:
ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; KVLQT1; Kv1.9; Kv7.1; LQT; LQT1; RWS; SQT2; WRS; KCNQ1; potassium voltage-gated channel subfamily Q member 1; potassium voltage-gated channel subfamily Q member 1; potassium voltage-gated channel subfamily KQT member 1; IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1; kidney and cardiac voltage dependend K+ channel; potassium channel, voltage gated KQT-like subfamily Q, member 1; potassium voltage-gated channel, KQT-like subfamily, member 1; slow delayed rectifier channel subunit; voltage-gated potassium channel subunit Kv7.1; 钾离子通道蛋白家族KCNQ1;
背景信息:
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,