Gene:
potassium inwardly-rectifying channel, subfamily J, member 1
Gene ID:
207227
Symbol:
KCNJ1
Species:
1000
Description:
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. Five transcript variants encoding three different isoforms have been found for this gene.