KCNH2

(redirected from potassium voltage-gated channel subfamily H member 2)

KCNH2

A gene on chromosome 7q36.1 that encodes an alpha subunit of voltage-gated, potassium channels of the eag family.

Molecular pathology
KCNH2 mutations can cause long QT syndrome type 2.
References in periodicals archive ?
Variants in 3 ion channel genes account for over 70% of patients with a definitive diagnosis of LQTS (13, 14) [although the yield is substantially less for all referral cases (15)]: loss of function variants in the potassium ion channel genes potassium voltage-gated channel subfamily Q member 1 (KCNQ1) and potassium voltage-gated channel subfamily H member 2 (KCNH2; LQT1 and LQT2 respectively) and gain of function variants in the sodium ion channel gene sodium voltage-gated channel alpha a subunit 5 (SCN5A; LQT3).

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