KCNJ6


Description

The KCNJ6 (potassium inwardly rectifying channel subfamily J member 6) is a protein-coding gene located on chromosome 21.

G protein-activated inward rectifier potassium channel 2 is a protein that in humans is encoded by the KCNJ6 gene. Mutation in KCNJ6 gene has been proposed to be the cause of Keppen-Lubinsky Syndrome (KPLBS). 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. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and may be involved in the regulation of insulin secretion by glucose. It associates with two other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex. KCNJ6 has been shown to interact with KCNJ9 and DLG1.

This potassium channel plays a role in regulating insulin secretion in response to glucose and neurotransmitters that work through G-protein coupled receptors. Inward rectifier potassium channels are designed to let potassium flow into the cell more easily than out. Their sensitivity to voltage changes depends on the concentration of potassium outside the cell. As the potassium levels outside the cell increase, the channel opens at a more positive voltage. The inward rectification is primarily caused by internal magnesium blocking the outward flow of potassium.

KCNJ6 is also known as BIR1, GIRK-2, GIRK2, KATP-2, KATP2, KCNJ7, KIR3.2, KPLBS, hiGIRK2.

Associated Diseases


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