DISEASES

Disease-gene associations mined from literature

Literature associating KCNH6 and Charcot-Marie-Tooth disease type 1D

KCNH6 [ENSP00000463533]

Potassium voltage-gated channel, subfamily H (eag-related), member 6; Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly activating, rectifying current (By similarity). Channel properties may be modulated by cAMP and subunit assembly; Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv11.2/KCNH6 sub-subfamily.

Synonyms:  KCNH6,  KCNH6p,  hKCNH6,  J3KSC2,  J9JID4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM