DISEASES

Disease-gene associations mined from literature

Literature associating KCNE1 and Andersen-Tawil syndrome

KCNE1 [ENSP00000337255]

IKs producing slow voltage-gated potassium channel subunit beta Mink; Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1. Assembled with KCNQ1/KVLQT1 is proposed to form the slowly activating delayed rectifier cardiac potassium (IKs) channel. The outward current reaches its steady state only after 50 seconds. Assembled with KCNH2/HERG may modulate the rapidly activating component of the delayed rectifying potassium current in heart (IKr).

Synonyms:  KCNE1,  KCNE1p,  hKCNE1,  A7LFK4,  B4E2L9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM