GIRK2 est un gène codé par le symbole KCNJ6. Communément appelé aussi: 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 a une masse de 48.45kDa, une longueur d'acide aminé de 423, et est impliqué dans Keppen-Lubinsky syndrome.
Nous proposons 13 des anticorps contre GIRK2, élevé dans Lapin, Souris et Chèvre, qui sont appropriés pour le WB, IHC et ELISA avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
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.
Résumé Entrez
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.
Spécificité tissulaire
Most abundant in cerebellum, and to a lesser degree in islets and exocrine pancreas.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ6 subfamily.
Localisation cellulaire
Membrane.
