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RNA tissue category: Group enriched (cerebellum, pituitary gland, hippocampus, brain)
GENE INFORMATION
Gene name
KCNJ6 (HGNC Symbol)
Synonyms
BIR1, GIRK2, hiGIRK2, KATP2, KCNJ7, Kir3.2
Description
Potassium channel, inwardly rectifying subfamily J, member 6 (HGNC Symbol)
Entrez gene summary
This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [provided by RefSeq, Apr 2015]