Potassium Inwardly-Rectifying Channel, Subfamily J, Member 8 (KCNJ8) Antibody – Rabbit Polyclonal

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. Defects in this gene may be a cause of J-wave syndromes and sudden infant death syndrome (SIDS). [provided by RefSeq, May 2012]

KCNJ8: This potassium channel is controlled by G proteins. 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 external barium. Defects in KCNJ8 may be associated with susceptibility to J-wave syndromes, a group of heart disorders characterized by early repolarization events as indicated by abnormal J-wave manifestation on electrocardiogram (ECG). The J point denotes the junction of the QRS complex and the ST segment on the ECG, marking the end of depolarization and the beginning of repolarization. An abnormal J wave is a deflection with a dome or hump morphology immediately following the QRS complex of the surface ECG. Examples of J-wave disorders are arrhythmias associated with an early repolarization pattern in the inferior or mid to lateral precordial leads, Brugada syndrome, some cases of idiopathic ventricular fibrillation (VF) with an early repolarization pattern in the inferior, inferolateral or global leads, as well as arrhythmias associated with hypothermia. Defects in KCNJ8 may be a cause of susceptibility to sudden infant death syndrome (SIDS). SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive. Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ8 subfamily.

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

Chromosomal Location of Human Ortholog: 12p11.23

Cellular Component: voltage-gated potassium channel complex; myofibril; mitochondrion; plasma membrane; ATP-sensitive potassium channel complex; sarcolemma

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

Biological Process: synaptic transmission; response to exogenous dsRNA; potassium ion import; heart development; response to lipopolysaccharide; kidney development; vasodilation; defense response to virus; potassium ion transport; response to pH