Kir2.1 ist ein Gen, das durch das Symbol KCNJ2 kodiert wird. Im Allgemeinen auch bezeichnet als: Inward rectifier potassium channel 2; Cardiac inward rectifier potassium channel; Inward rectifier K(+) channel IRK-1; Potassium channel, inwardly rectifying subfamily J member 2; KCNJ2; IRK1. Kir2.1 hat eine Masse von 48.29kDa, eine Aminosäurelänge von 427, und ist an folgenden Krankheiten beteiligt: Long QT syndrome 7; Short QT syndrome 3; Atrial fibrillation, familial, 9.
Wir bieten 8 antikörper gegen Kir2.1, aufgewachsen in Kaninchen und Maus, welche geeignet sind für WB, IHC, ELISA and ICC/IF mit Proben abgeleitet von Human, Maus, Ratte und Affe.
Gen- und Proteininformationen
UniProt Zusammenfassung
Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. 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 or cesium.
Entrez Zusammenfassung
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, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features.
Gewebespezifität
Heart, brain, placenta, lung, skeletal muscle, and kidney. Diffusely distributed throughout the brain.
Rolle bei Krankheiten
Long QT syndrome 7: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type 7 manifests itself as a clinical triad consisting of potassium-sensitive periodic paralysis, ventricular ectopy and dysmorphic features.
Short QT syndrome 3: A heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It causes syncope and sudden death. SQT3 has a unique ECG phenotype characterized by asymmetrical T waves.
Atrial fibrillation, familial, 9: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.
Sequenzähnlichkeiten
Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ2 subfamily.
Posttranslationale Modifikation
S-nitrosylation increases the open probability and inward rectifying currents.
Zellort
Membrane. Membrane.
