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. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene.
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Protein Aliases: ATP-regulated potassium channel ROM-K; ATP-sensitive inward rectifier potassium channel 1; Inward rectifier K(+) channel Kir1.1; inwardly rectifying K+ channel; inwardly rectifying potassium channel ROMK-2; K+ channel protein; KAB-1; kir1.1; OTTHUMP00000045938; Potassium channel, inwardly rectifying subfamily J member 1; potassium channel, inwardly rectifying subfamily J, member 1; Potassium inwardly-rectifying channel subfamily J; potassium inwardly-rectifying channel, subfamily J, member 1
Gene Aliases: Kcnj; KCNJ1; KIR1.1; ROMK; ROMK1; Romk2