Potassium Inwardly Rectifying Channel Subfamily J, Member 10 (KCNJ10) ELISA Kit for Human

This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008]

Kir4.1: May be responsible for potassium buffering action of glial cells in the brain. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium and cesium. Defects in KCNJ10 are the cause of seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES). A complex disorder characterized by generalized seizures with onset in infancy, delayed psychomotor development, ataxia, sensorineural hearing loss, hypokalemia, metabolic alkalosis, and hypomagnesemia. Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ10 subfamily.

Protein type: Channel, ligand-gated; Channel, potassium; Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 1q23.2

Cellular Component: basolateral plasma membrane; integral component of plasma membrane; plasma membrane

Molecular Function: ATP binding; ATP-activated inward rectifier potassium channel activity; G-protein activated inward rectifier potassium channel activity; inward rectifier potassium channel activity; protein binding

Biological Process: adult walking behavior; glutamate reuptake; myelination in the central nervous system; potassium ion homeostasis; potassium ion import; potassium ion transport; regulation of long-term neuronal synaptic plasticity; regulation of resting membrane potential; visual perception

Disease: Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct; Pendred Syndrome; Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance