KCNJ1

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]

Description

potassium inwardly-rectifying channel, subfamily J, member 1

Protein family

Membrane proteins predicted by MDM, Transporters, Voltage-gated ion channels

Chromosome

11:q24.3 (128706210 - 128737268)

Ensembl ID

ENSG00000151704  (ver. 69.37)

Orthologs

Mouse Kcnj1: ENSMUSG00000041248

Human splice variants
Mouse splice variants