GIRK2 ist ein Gen, das durch das Symbol KCNJ6 kodiert wird. Im Allgemeinen auch bezeichnet als: G protein-activated inward rectifier potassium channel 2; GIRK-2; BIR1; Inward rectifier K(+) channel Kir3.2; KATP-2; Potassium channel, inwardly rectifying subfamily J member 6; KCNJ6; KATP2; KCNJ7. GIRK2 hat eine Masse von 48.45kDa, eine Aminosäurelänge von 423, und ist an Keppen-Lubinsky syndrome beteiligt.
Wir bieten 13 antikörper gegen GIRK2, aufgewachsen in Kaninchen, Maus und Ziege, welche geeignet sind für WB, IHC and ELISA mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
This potassium channel may be involved in the regulation of insulin secretion by glucose and/or neurotransmitters acting through G-protein-coupled receptors. 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.
Entrez Zusammenfassung
This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability.
Gewebespezifität
Most abundant in cerebellum, and to a lesser degree in islets and exocrine pancreas.
Rolle bei Krankheiten
Keppen-Lubinsky syndrome: A rare disease characterized by severe developmental delay, intellectual disability, severe generalized lipodystrophy, dysmorphic features including microcephaly, large prominent eyes, narrow nasal bridge, tented upper lip, high palate, open mouth, tightly adherent skin, and aged appearance.
Sequenzähnlichkeiten
Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ6 subfamily.
