Potassium Inwardly-Rectifying Channel, Subfamily J, Member 10 (KCNJ10) Antibody – Rabbit Polyclonal

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

Chromosomal Location of Human Ortholog: 1q23.2

Cellular Component: microvillus; integral to plasma membrane; basolateral plasma membrane; apical plasma membrane; plasma membrane

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

Biological Process: regulation of long-term neuronal synaptic plasticity; myelination in the central nervous system; response to glucocorticoid stimulus; membrane hyperpolarization; response to blue light; glutamate uptake during transmission of nerve impulse; response to mineralocorticoid stimulus; adult walking behavior; protein homotetramerization; synaptic transmission; potassium ion import; visual perception; optic nerve development; regulation of resting membrane potential; regulation of sensory perception of pain; inflammatory response; potassium ion homeostasis; potassium ion transport

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