Potassium Voltage-Gated Channel Subfamily H Member 1 (KCNH1) ELISA Kit for Human

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 of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

Kv10.1: Pore-forming (alpha) subunit of voltage-gated non- inactivating delayed rectifier potassium channel. Channel properties may be modulated by cAMP and subunit assembly. Mediates IK(NI) current in myoblasts. Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv10.1/KCNH1 sub-subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 1q32.2

Cellular Component: axon; cell junction; dendrite; early endosome membrane; integral component of plasma membrane; intracellular membrane-bound organelle; nuclear inner membrane; perikaryon; plasma membrane; postsynaptic density; postsynaptic membrane; presynaptic membrane; voltage-gated potassium channel complex

Molecular Function: calmodulin binding; cyclic nucleotide binding; delayed rectifier potassium channel activity; phosphorelay sensor kinase activity; protein binding

Biological Process: myoblast fusion; phosphoinositide-mediated signaling; potassium ion transport; regulation of cell proliferation; regulation of membrane potential; two-component signal transduction system (phosphorelay)

Disease: Temple-baraitser Syndrome; Zimmermann-laband Syndrome 1