Literature associating KCNH2 and Timothy syndrome
Potassium voltage-gated channel, subfamily H (eag-related), member 2; Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Channel properties are modulated by cAMP and subunit assembly. Mediates the rapidly activating component of the delayed rectifying potassium current in heart (IKr).
Synonyms: KCNH2, KCNH2p, hKCNH2, KCNH2-001, KCNH2-002 ...