KCNJ1, Official Symbol KCNJ1provided by HGNC Official Full Name potassium inwardly rectifying channel subfamily J member 1provided by HGNC Primary source HGNC:HGNC:6255 See related Ensembl:ENSG00000151704 MIM:600359; AllianceGenome:HGNC:6255 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ROMK; ROMK1; KIR1.1 Summary 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] Expression Restricted expression toward kidney (RPKM 75.2) See more Orthologs mouse all