Bovine Inward rectifier potassium channel 2 (KCNJ2) ELISA Kit | KCNJ2 elisa kit
Bovine Inward rectifier potassium channel 2 (KCNJ2) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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. [provided by RefSeq, Jul 2008]
Uniprot Description
KCNJ2: 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. Defects in KCNJ2 are the cause of long QT syndrome type 7 (LQT7); also called Andersen syndrome or Andersen cardiodysrhythmic periodic paralysis. Long QT syndromes are heart disorders characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to excercise or emotional stress. LQT7 manifests itself as a clinical triad consisting of potassium-sensitive periodic paralysis, ventricular ectopy and dysmorphic features. Defects in KCNJ2 are the cause of short QT syndrome type 3 (SQT3). Short QT syndromes are heart disorders characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. They cause syncope and sudden death. SQT3 has a unique ECG phenotype characterized by asymmetrical T waves. Defects in KCNJ2 are the cause of familial atrial fibrillation type 9 (ATFB9). ATFB9 is 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. Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ2 subfamily.
Protein type: Membrane protein, integral; Channel, potassium; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 17q24.3
Cellular Component: Golgi apparatus; voltage-gated potassium channel complex; smooth endoplasmic reticulum; rough endoplasmic reticulum; cell soma; integral to plasma membrane; T-tubule; plasma membrane; dendritic spine; intrinsic to membrane
Molecular Function: identical protein binding; phosphatidylinositol-4,5-bisphosphate binding; inward rectifier potassium channel activity
Biological Process: synaptic transmission; regulation of skeletal muscle contraction via membrane action potential; potassium ion import; regulation of resting membrane potential; cellular potassium ion homeostasis; potassium ion transport; magnesium ion transport; protein homotetramerization
Disease: Atrial Fibrillation, Familial, 9; Andersen Cardiodysrhythmic Periodic Paralysis; Short Qt Syndrome 3
