DISEASES

Disease-gene associations mined from literature

Literature associating KCNH2 and Timothy syndrome

KCNH2 [ENSP00000262186]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM