GeneID: 235

Description:
The KCNQ1 gene encodes a voltage-gated potassium (Kv) channel. The transmembrane part of Kv consists of an ion-conducting pore with a selectivity filter for potassium ions (K+) and a voltage-sensing domain with sensitivity to changes in the membrane potential. Kv channels facilitate cellular repolarization during an action potential, opening in response to membrane depolarization (whereby the negative internal charge of the cell becomes more positive) to form a conduit for K+ efflux (thereby returning the cell to its resting potential). Kv channels play key roles in several physiological events, controlling membrane potential, ion homeostasis and secretory processes. The encoded protein can form complexes with two other K+ channel proteins, KCNE1 and KCNE3, controlling cardiac myocyte repolarization and epithelial ion and salt transport/homeostasis. The KCNQ1 and human β-globin gene cluster reside in the chromosome region 11p15, which carries important genes associated with haematopoiesis. A polymorphism in this gene associated with HbA2 levels, suggesting a modulatory role by KCNQ1 on the expression of the β-globin gene cluster. Alternatively spliced transcript variants have been found for this gene.

Synonyms: LQT , RWS , WRS , LQT1 , SQT2 , ATFB1 , ATFB3 , JLNS1 , KCNA8 , KCNA9 , Kv1.9 , Kv7.1 , KVLQT1

Comments:
N/A

Number of entries/variants: 1

1. Jespersen T, Grunnet M, Olesen SP, The KCNQ1 potassium channel: from gene to physiological function., Physiology (Bethesda) , 20(0), 408-16, 2005 PubMed
2. Grizel AV, Glukhov GS, Sokolova OS, Mechanisms of activation of voltage-gated potassium channels., Acta Naturae , 6(4), 10-26, 2014 PubMed
3. Abbott GW, KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation., Gene , 576(1), 1-13, 2016 PubMed
4. Yu S, Chen Y, Lai K, Dewan RK, He Y, A Novel Variant with Positive Natural Selection Influenced Hb A2 Levels in Chinese Individuals with β-Thalassemia., Hemoglobin , 2017 PubMed