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Rabbit Anti-Kir2.1/FITC Conjugated antibody
background:
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]
Function:
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.
Subcellular Location:
Membrane.
Tissue Specificity:
Heart, brain, placenta, lung, skeletal muscle, and kidney. Diffusely distributed throughout the brain.
DISEASE:
Defects in KCNJ2 are the cause of long QT syndrome type 7 (LQT7) [MIM:170390]; 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) [MIM:609622]. 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.
Similarity:
Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family.
KCNJ2 subfamily.
Database links:
Entrez Gene: 3759 Human
Entrez Gene: 16518 Mouse
Entrez Gene: 29712 Rat
Omim: 600681 Human
SwissProt: P63252 Human
SwissProt: P35561 Mouse
SwissProt: Q64273 Rat
Unigene: 1547 Human
Unigene: 4951 Mouse
Unigene: 44415 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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