Potassium Inwardly-Rectifying Channel, Subfamily J, Member 1 (KCNJ1) Antibody – Rabbit Polyclonal

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]

ROMK: an inward rectifier-type potassium channel protein. Probably plays a major role in potassium homeostasis in the kidney. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. The channel is activated by internal ATP and can be blocked by external barium. High levels of expression in the kidney and pancreatic islets. Lower levels in skeletal muscle, pancreas, spleen, brain, heart and liver. Three alternatively spliced isoforms have been described.

Protein type: Membrane protein, integral; Channel, potassium; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 11q24

Cellular Component: voltage-gated potassium channel complex; plasma membrane

Molecular Function: phosphatidylinositol-4,5-bisphosphate binding; ATP-activated inward rectifier potassium channel activity; inward rectifier potassium channel activity; ATP binding

Biological Process: synaptic transmission; potassium ion import; tissue homeostasis; excretion; kidney development; potassium ion transport; post-embryonic development

Disease: Bartter Syndrome, Antenatal, Type 2