KCNJ6 Rabbit pAb

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. Synonyma: BIR1, GIRK2, KATP2, KCNJ7, KPLBS, GIRK-2, KATP-2, KIR3.2, hiGIRK2, KCNJ6