Aliases for KCNH6 Gene
External Ids for KCNH6 Gene
Previous GeneCards Identifiers for KCNH6 Gene
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]
GeneCards Summary for KCNH6 Gene
KCNH6 (Potassium Voltage-Gated Channel Subfamily H Member 6) is a Protein Coding gene. Diseases associated with KCNH6 include Charcot-Marie-Tooth Disease, Demyelinating, Type 1D and Charcot-Marie-Tooth Disease, Axonal, Type 2F. Among its related pathways are Transmission across Chemical Synapses and Potassium Channels. Gene Ontology (GO) annotations related to this gene include signal transducer activity and voltage-gated potassium channel activity. An important paralog of this gene is KCNH2.
UniProtKB/Swiss-Prot for KCNH6 Gene
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.
Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.