KCNQ1
MIM.607542 11p15.5
KCNQ1 is an alpha subunit of potassium channels.
KCNQ1 is the pore-forming subunit of a channel complex whose expression and function have been rather well characterized in the heart.
Pathology
Almost 300 mutations of KCNQ1 have been identified in patients and a vast majority of the described mutations are linked to the long QT syndrome. Only a few mutations are linked to other pathologies such as atrial fibrillation and the short QT syndrome.
germline gain-of-function mutation of KCNQ1 in
- long QT syndrome
- atrial fibrillation
- short QT syndrome
references
Peroz D, Rodriguez N, Choveau F, Baró I, Mérot J, Loussouarn G. Kv7.1 (KCNQ1) properties and channelopathies .J Physiol. 2008 Apr 1;586(7):1785-9. PMID: #18174212#