The role of abnormal trafficking of KCNE1 in long QT syndrome 5

S C Harmer, A Tinker

Research output: Contribution to journalReview article (Academic Journal)peer-review

17 Citations (Scopus)


LQTS (long QT syndrome) is an important cause of cardiac sudden death. LQTS is characterized by a prolongation of the QT interval on an electrocardiogram. This prolongation predisposes the individual to torsade-de-pointes and subsequent sudden death by ventricular fibrillation. Mutations in a number of genes that encode ion channels have been implicated in LQTS. Hereditary mutations in the alpha- and beta-subunits, KCNQ1 and KCNE1 respectively, of the K(+) channel pore I(Ks) are the commonest cause of LQTS and account for LQTS types 1 and 5 respectively (LQT1 and LQT5). Recently, it has been shown that disease pathogenesis in LQT1 can be influenced by the abnormal trafficking of KCNQ1. In comparison, whether defective trafficking of KCNE1 plays a role in LQT5 is less well established.

Original languageEnglish
Pages (from-to)1074-6
Number of pages3
JournalBiochemical Society Transactions
Issue numberPt 5
Publication statusPublished - Nov 2007


  • Humans
  • KCNQ1 Potassium Channel/genetics
  • Long QT Syndrome/metabolism
  • Mutation
  • Potassium Channels, Voltage-Gated/metabolism
  • Protein Binding
  • Protein Transport


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