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FLASH GENE
Symbol KCNQ1 contributors: mct - updated : 26-04-2017
HGNC name potassium voltage-gated channel, KQT-like subfamily, member 1
HGNC id 6294
ASSOCIATED DISORDERS
corresponding disease(s) JLNS1 , LQT1 , ATFB3 , SQT2
related resource Long QT Syndrome Database
Gene Connection for the Heart
Congenital Long QT Syndrome
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional   deletion    
maybe disrupted in (some) Beckwith-Wiedemann syndromes, see KCNQ1OT1
constitutional germinal mutation      
massive truncation of the C-terminal domain of KCNQ1 subunit (Y461X) severely impairs channel assembly, trafficking, and function and homozygous inheritance might cause arrhythmic disorders due to the total loss of the cardiac slow delayed rectifier K+ current
Susceptibility
  • to arrhythmia or sudden death
  • to type 2 diabetes mellitus
  • to atrial fibrillation
  • to sudden infant death syndrome (with short or long QT)
    • Variant & Polymorphism SNP , other
  • 2031+932 A>G increasing the risk of risk of arrhythmia or sudden death
  • polymorphisms increasing the risk of to type 2 diabetes mellitus
  • variants associated to sudden infant death syndrome (with short or long QT)
  • K1493R associated to atrial fibrillation (leads to a significant positive shift in voltage-dependence of inactivation and a large ramp current near resting membrane potential, indicating a gain-of-function)
    • Candidate gene
  • physical interaction between KCNQ1 and KCNE1 is potentially affected in some LQTS mutations
    • Marker
    Therapy target
    SystemTypeDisorderPubmed
    cardiovascularrythm 
    modulation of KCNQ1 splicing may help prevent arrhythmia
    ANIMAL & CELL MODELS
  • targeted disruption of mouse Kcnq1
  • Kcne2-deficient mice had hypothyroidism, dwarfism, alopecia, goiter and cardiac abnormalities including hypertrophy, fibrosis, and reduced fractional shortening
  • potential therapeutic target for thyroid disorders