Description
Product Characteristics:
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. [provided by RefSeq, Jul 2008].
Subcellular location: Cell membrane
Synonyms: ROM K, ROM-K, inwardly rectying subfamily J member 1, ATP regulated potassium channel ROM K, ATP sensitive inward rectier potassium channel 1, ATP-regulated potassium channel ROM-K, ATP-sensitive inward rectier potassium channel 1, Inward rectier K+ channel Kir1.1, inwardly rectying K+ channel, IRK1_HUMAN, KCNJ 1, KCNJ, Kcnj1, Kir 1.1, Kir1.1, Potassium channel, Potassium channel inwardly rectying subfamily J member 1, potassium inwardly-rectying channel J1, ROMK 1, ROMK 2, ROMK, ROMK1, ROMK2.
Target Information: 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. [provided by RefSeq, Jul 2008]