ABCC8

ABCC8 is a gene that provides instructions for making a protein that is part of a potassium channel. This channel, which spans the membrane of insulin-producing cells in the pancreas, regulates the flow of positively charged atoms (ions) into these cells. The channel is made up of four proteins produced from the ABCC8 gene and four proteins produced from another gene (KCNJ11). The activity of this channel is critical for maintaining normal insulin secretion and blood sugar levels.

Function

The ABCC8 gene provides instructions for making a protein that is part of a potassium channel. This channel, which spans the membrane of insulin-producing cells in the pancreas, regulates the flow of positively charged atoms (ions) into these cells. The channel is made up of four proteins produced from the ABCC8 gene and four proteins produced from another gene (KCNJ11). The activity of this channel is critical for maintaining normal insulin secretion and blood sugar levels.

Clinical significance

Mutations in the ABCC8 gene can cause several conditions related to insulin regulation. These conditions include hyperinsulinism, which is characterized by excessive insulin production, and several forms of diabetes, which involve impaired insulin secretion.

See also

• ATP-binding cassette transporter
• Sulfonylurea receptor

References

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External links

• ABCC8 at NCBI
• ABCC8 at GHR

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