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URL of this page: https://medlineplus.gov/genetics/gene/abcc8/

ABCC8 gene

ATP binding cassette subfamily C member 8

Normal Function

The ABCC8 gene provides instructions for making one part (subunit) of the ATP-sensitive potassium (KATP) channels that are found in specialized pancreas cells called beta cells. These KATP channels consist of eight subunits: four of these subunits are produced from the ABCC8 gene and four are produced from another gene called KCNJ11.

These KATP channels span the cell membrane of the beta cells. Beta cells secrete the hormone insulin, which helps control the levels of glucose in the blood, also called blood sugar. Glucose is a simple sugar and the primary energy source for most cells in the body. When blood glucose levels are high, the KATP channels close, which triggers the beta cells to release insulin into the bloodstream. In this way, the KATP channels help regulate insulin secretion and control blood glucose levels.

Health Conditions Related to Genetic Changes

Congenital hyperinsulinism

Variants (also called mutations) in the ABCC8 gene can cause congenital hyperinsulinism. This condition causes frequent episodes of low blood glucose levels, decreased energy, and irritability. Many of these variants lead to the substitution of one protein building block (amino acid) for another in the ABCC8 protein.

The ABCC8 gene variants that are associated with congenital hyperinsulinism cause cells to make a version of the ABCC8 protein that does not function properly. The altered proteins disrupt the function of the KATP channels, which causes the beta cells to release too much insulin. As a result, glucose is rapidly removed from the bloodstream. Without treatment, the low blood glucose levels caused by congenital hyperinsulinism may result in serious complications, such as intellectual disabilities and seizures.

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Permanent neonatal diabetes mellitus

Different variants in the ABCC8 gene cause permanent neonatal diabetes mellitus, which is a form of diabetes that typically appears within the first 6 months after birth (the neonatal period) and continues throughout life. Variants in the ABCC8 gene cause approximately 10 to 15 percent of all cases of permanent neonatal diabetes mellitus. These ABCC8 gene variants often lead to the substitution of one amino acid for another in the ABCC8 protein, which impairs the activity of the KATP channels. As a result, the channels do not close properly, which reduces insulin secretion and leads to higher blood glucose levels. Affected individuals develop a form of diabetes in infancy that lasts throughout life.

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Maturity-onset diabetes of the young

MedlinePlus Genetics provides information about Maturity-onset diabetes of the young

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Other disorders

ABCC8 gene variants can also cause transient neonatal diabetes mellitus. Infants with this condition have high levels of blood glucose during the first 6 months of life, but their blood glucose levels typically return to normal by age 18 months. However, affected individuals often develop high blood glucose levels again during adolescence or early adulthood. As in people with permanent neonatal diabetes mellitus, ABCC8 gene variants that cause transient neonatal diabetes mellitus lead to a disruption in the activity of the KATP channels, which reduces insulin secretion. However, these variants have a milder effect on KATP channel function than those that cause permanent neonatal diabetes mellitus.

Variants in the ABCC8 gene can also cause a condition in which individuals have low blood glucose levels after eating high-protein meals, especially meals that are high in a specific amino acid called leucine. This condition is sometimes called leucine-sensitive hypoglycemia. There is some debate among researchers as to whether leucine-sensitive hypoglycemia is a distinct disorder or simply a feature of conditions in which too much insulin is released into the bloodstream (hyperinsulinemia).

Some studies suggest that normal variations (polymorphisms) in the ABCC8 gene are associated with an increased risk of type 2 diabetes, the most common form of diabetes. People with this disease have high blood glucose levels because the body does not respond correctly to the insulin secreted from beta cells. Although changes in the ABCC8 gene may be associated with a higher risk of developing type 2 diabetes, a combination of lifestyle, genetic, and environmental factors play a part in determining the risk of this complex disorder.

Other Names for This Gene

  • ABC36
  • ATP-binding cassette, sub-family C (CFTR/MRP), member 8
  • ATP-binding cassette, sub-family C, member 8
  • MRP8
  • sulfonylurea receptor
  • sulfonylurea receptor, beta cell high affinity
  • SUR1
  • TNDM2

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Bennett K, James C, Hussain K. Pancreatic beta-cell KATP channels: Hypoglycaemia and hyperglycaemia. Rev Endocr Metab Disord. 2010 Sep;11(3):157-63. doi: 10.1007/s11154-010-9144-2. Citation on PubMed
  • De Leon DD, Pinney SE. Permanent Neonatal Diabetes Mellitus. 2008 Feb 8 [updated 2025 Sep 25]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1447/ Citation on PubMed
  • Edghill EL, Flanagan SE, Ellard S. Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11. Rev Endocr Metab Disord. 2010 Sep;11(3):193-8. doi: 10.1007/s11154-010-9149-x. Citation on PubMed
  • Ellard S, Flanagan SE, Girard CA, Patch AM, Harries LW, Parrish A, Edghill EL, Mackay DJ, Proks P, Shimomura K, Haberland H, Carson DJ, Shield JP, Hattersley AT, Ashcroft FM. Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. Am J Hum Genet. 2007 Aug;81(2):375-82. doi: 10.1086/519174. Epub 2007 Jun 29. Citation on PubMed or Free article on PubMed Central
  • Flanagan SE, Clauin S, Bellanne-Chantelot C, de Lonlay P, Harries LW, Gloyn AL, Ellard S. Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat. 2009 Feb;30(2):170-80. doi: 10.1002/humu.20838. Citation on PubMed
  • Flanagan SE, Patch AM, Mackay DJ, Edghill EL, Gloyn AL, Robinson D, Shield JP, Temple K, Ellard S, Hattersley AT. Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes. 2007 Jul;56(7):1930-7. doi: 10.2337/db07-0043. Epub 2007 Apr 19. Citation on PubMed
  • Gloyn AL, Siddiqui J, Ellard S. Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat. 2006 Mar;27(3):220-31. doi: 10.1002/humu.20292. Citation on PubMed
  • Huopio H, Shyng SL, Otonkoski T, Nichols CG. K(ATP) channels and insulin secretion disorders. Am J Physiol Endocrinol Metab. 2002 Aug;283(2):E207-16. doi: 10.1152/ajpendo.00047.2002. Citation on PubMed
  • Magge SN, Shyng SL, MacMullen C, Steinkrauss L, Ganguly A, Katz LE, Stanley CA. Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor. J Clin Endocrinol Metab. 2004 Sep;89(9):4450-6. doi: 10.1210/jc.2004-0441. Citation on PubMed
  • Pinney SE, MacMullen C, Becker S, Lin YW, Hanna C, Thornton P, Ganguly A, Shyng SL, Stanley CA. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. J Clin Invest. 2008 Aug;118(8):2877-86. doi: 10.1172/JCI35414. Citation on PubMed or Free article on PubMed Central
  • Sandal T, Laborie LB, Brusgaard K, Eide SA, Christesen HB, Sovik O, Njolstad PR, Molven A. The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy. Clin Genet. 2009 May;75(5):440-8. doi: 10.1111/j.1399-0004.2009.01152.x. Citation on PubMed

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.