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Reviewed January 2014
What is the official name of the ABCC8 gene?
The official name of this gene is “ATP-binding cassette, sub-family C (CFTR/MRP), member 8.”
ABCC8 is the gene's official symbol. The ABCC8 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the ABCC8 gene?
The ABCC8 gene provides instructions for making the sulfonylurea receptor 1 (SUR1) protein. The SUR1 protein is one part (subunit) of the ATP-sensitive potassium (K-ATP) channel that is found across cell membranes in the beta cells of the pancreas. Beta cells secrete insulin, which is a hormone that helps control blood sugar levels. Insulin controls how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. The K-ATP channel controls the secretion of insulin out of beta cells and into the bloodstream. These channels open and close in response to the amount of glucose in the bloodstream, which helps regulate insulin secretion and control blood sugar levels. The closing of the channels results in a process that triggers insulin secretion by beta cells.
Does the ABCC8 gene share characteristics with other genes?
The ABCC8 gene belongs to a family of genes called ABC (ATP-binding cassette transporters).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the ABCC8 gene related to health conditions?
Where is the ABCC8 gene located?
Cytogenetic Location: 11p15.1
Molecular Location on chromosome 11: base pairs 17,392,884 to 17,476,844
The ABCC8 gene is located on the short (p) arm of chromosome 11 at position 15.1.
More precisely, the ABCC8 gene is located from base pair 17,392,884 to base pair 17,476,844 on chromosome 11.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ABCC8?
You and your healthcare professional may find the following resources about ABCC8 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the ABCC8 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding ABCC8?
acids ; ATP ; cell ; cell membrane ; channel ; congenital ; diabetes ; diabetes mellitus ; disability ; gene ; glucose ; hormone ; hyperglycemia ; hyperinsulinism ; hypoglycemia ; insulin ; neonatal ; pancreas ; potassium ; protein ; protein sequence ; receptor ; secretion ; subunit ; transient
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (11 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.