Article
Mutations in the hminK gene cause long QT syndrome and suppress IKs function.
Nature genetics - 1 Nov 1997
Splawski I, Tristani-Firouzi M, Lehmann M H, Sanguinetti M C, Keating M T
Abstract excerpt
Ion-channel beta-subunits are ancillary proteins that co-assemble with alpha-subunits to modulate the gating kinetics and enhance stability of multimeric channel complexes. Despite their functional importance, dysfunction of potassium-channel beta-subunits has not been associated with disease. Recent physiological studies suggest that KCNE1 encodes beta-subunits (hminK) that co-assemble with KvLQT1 alpha-subunits...
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