LQT4 Gene: The “Missing” Ankyrin

Table 1.

Summary of Genes Implicated in LQTS and Other Cardiac Arrhythmiasa

Disease Locus Location Gene Molecular Mechanism
a See review by Wang et al. (1). b See reference (29). c See reference(19).
Autosomal dominant LQT1 11p15.5 KCNQ1 (KvLQT1) (IKs) a cardiac potassium channel subunit gene Dominant-negative or loss-of-function
LQTS LQT2 7q35–36 KCNH2 (HERG) (IKs) a cardiac potassium channel gene Dominant-negative or loss-of-function
LQT3 3q21–24 SCN5A (INa) cardiac sodium channel gene Gain-of-function
LQT4 4q25–27 Ankyrin-B (ANK2) adapter protein Loss-of-function
LQT5 21q22 KCNE1 or MinK (IKs) a cardiac potassium channel subunit gene Dominant-negative or loss-of-function
LQT6 21q22 KCNE2 (MiRP1) co-assembl with KCNH2 to form IKr Dominant-negative or loss-of-function
Autosomal recessive JLN1 11p15.5 KvLQT1 (IKs) a cardiac potassium channel β subunit gene Dominant-negative or loss-of-function
LQTS JLN2 21q22 KCNE1 or MinK (IKs) a cardiac potassium channel β subunit gene Dominant-negative or loss-of-function
Brugada Syndrome 3q21–24 SCN5A (INa) cardiac sodium channel gene Loss-of-function
Cardiac Conduction 3q21–24 SCN5A (INa) cardiac sodium channel gene Loss-of-function
Disease
Catecholamine- 1q42–43 RyR2 cardiac ryanodine receptor gene 2 Unknown
induced VT 1q13–21 CASQ2c cardiac SR calsequestrin 2
Atrial fibrillationb 11p15.5 KVLQT1 (IKs) cardiac potassium channel subunit gene Gain-of-function
Wolff-Parkinson-White Syndrome 7q34–36 PRKAG2 γ2 -regulatory subunit of AMP activated protein kinase Gain-of-function?
Andersen’s Syndrome 17q23.1–24.2 KCNJ2 (Kir2.1) inward rectifier potassium channel Dominant-negative or loss-of-function

This Article

  1. MI May 2003 vol. 3 no. 3 131-136