Preferred Label : Long QT syndrome type 1;
ICD-11 definition : LQT1 is the most common type of long QT syndrome, making up about 30 to 35 percent
of all cases. The LQT1 gene is KCNQ1, which has been isolated to chromosome 11p15.5.
KCNQ1 codes for the voltage-gated potassium channel KvLQT1 that is highly expressed
in the heart. It is believed that the product of the KCNQ1 gene produces an alpha
subunit that interacts with other proteins (in particular, the minK beta subunit)
to create the IKs ion channel, which is responsible for the delayed potassium rectifier
current of the cardiac action potential.;
Origin ID : 1269266075;
Automatic exact mappings (from CISMeF team)
LQT1 is the most common type of long QT syndrome, making up about 30 to 35 percent
of all cases. The LQT1 gene is KCNQ1, which has been isolated to chromosome 11p15.5.
KCNQ1 codes for the voltage-gated potassium channel KvLQT1 that is highly expressed
in the heart. It is believed that the product of the KCNQ1 gene produces an alpha
subunit that interacts with other proteins (in particular, the minK beta subunit)
to create the IKs ion channel, which is responsible for the delayed potassium rectifier
current of the cardiac action potential.
