Entrez 3758 | Ensembl ENSG00000151704 | |
Aliases KCNJ1, KIR1.1, ROMK, ROMK1, potassium voltage-gated channel subfamily J member 1 External IDs OMIM: 600359 MGI: 1927248 HomoloGene: 56764 GeneCards: KCNJ1 | ||
The renal outer medullary potassium channel (ROMK) is an ATP-dependent potassium channel (Kir1.1) that transports potassium out of cells. It plays an important role in potassium recycling in the thick ascending limb (TAL) and potassium secretion in the cortical collecting duct (CCD) of the nephron. In humans, ROMK is encoded by the KCNJ1 (potassium inwardly-rectifying channel, subfamily J, member 1) gene. Multiple transcript variants encoding different isoforms have been found for this gene.
Contents
Function
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 inhibited 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 (hence the term "inwardly rectifying"). ROMK was identified as the pore forming component of mitoKATP channels that are known to have a critical role during stroke or other ischemic attacks in the protection against hypoxia-induced brain injury.
Clinical significance
Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure.