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Reviewed January 2013
What is the official name of the ABCC9 gene?
The official name of this gene is “ATP-binding cassette, sub-family C (CFTR/MRP), member 9.”
ABCC9 is the gene's official symbol. The ABCC9 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 ABCC9 gene?
The ABCC9 gene provides instructions for making the sulfonylurea receptor 2 (SUR2) protein. This protein forms one part (subunit) of a channel that transports charged atoms of potassium (potassium ions) across cell membranes. Each of these channels consists of eight subunits: four SUR2 proteins and four proteins produced from either the KCNJ8 or KCNJ11 gene. The SUR2 subunits regulate the activity of the channel, determining whether it is open or closed.
Channels made with the SUR2 protein are known as ATP-sensitive potassium (K-ATP) channels. The channels open and close in response to the amount of ATP, the cell's main energy source, inside the cell. The resulting transport of potassium ions is part of a complex network of signals that relay chemical messages into and out of cells.
Although K-ATP channels are present in cells and tissues throughout the body, the highest levels of SUR2-containing channels are found in skeletal and heart (cardiac) muscle. These channels indirectly help regulate the concentration of calcium ions in cells. This regulation is essential for normal heart function. The function of these channels in other tissues is unclear.
Does the ABCC9 gene share characteristics with other genes?
The ABCC9 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 ABCC9 gene related to health conditions?
Genetics Home Reference provides information about familial dilated cardiomyopathy, which is also associated with changes in the ABCC9 gene.
Where is the ABCC9 gene located?
Cytogenetic Location: 12p12.1
Molecular Location on chromosome 12: base pairs 21,797,388 to 21,941,862
The ABCC9 gene is located on the short (p) arm of chromosome 12 at position 12.1.
More precisely, the ABCC9 gene is located from base pair 21,797,388 to base pair 21,941,862 on chromosome 12.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ABCC9?
You and your healthcare professional may find the following resources about ABCC9 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 ABCC9 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 ABCC9?
amino acid ; arrhythmia ; ATP ; calcium ; cardiac ; cardiomyopathy ; cell ; channel ; dilated ; familial ; gene ; hypertrichosis ; ions ; mutation ; potassium ; protein ; receptor ; subunit ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (6 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.