KCNJ1 Products

Description

FUNCTION: In the kidney, probably plays a major role in potassium homeostasis. 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. This channel is activated by internal ATP and can be blocked by external barium.; Tissue specificity: In the kidney and pancreatic islets. Lower levels in skeletal muscle, pancreas, spleen, brain, heart and liver.; Subcellular location: Membrane, Multi-pass membrane protein.; Involvement in disease: Defects in KCNJ1 are the cause of Bartter syndrome type 2 (BS2) also termed hyperprostanglandin E syndrome 2. BS refers to a group of autosomal recessive disorders characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BS2 is a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark of BS2 is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia.

Bioinformatics

Entrez	24521 Rat 3758 Human 56379 Mouse
Uniprot	NM_000220 Human NP_000211 Human NP_000211.1 Human P48048 Human
Product By Gene ID	3758
Alternate Names	ATP-regulated potassium channel ROM-K ATP-sensitive inward rectifier potassium channel 1 inwardly rectifying K+ channel Kir1.1 KIR1.1 potassium inwardly-rectifying channel, subfamily J, member 1 ROMK1inwardly rectifying subfamily J member 1