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Reviewed November 2012
What is the official name of the ABCA1 gene?
The official name of this gene is “ATP-binding cassette, sub-family A (ABC1), member 1.”
ABCA1 is the gene's official symbol. The ABCA1 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 ABCA1 gene?
The ABCA1 gene belongs to a group of genes called the ATP-binding cassette family, which provides instructions for making proteins that transport molecules across cell membranes. The ABCA1 protein is produced in many tissues, with high amounts found in the liver and in immune system cells called macrophages. This protein moves cholesterol and certain fats called phospholipids across the cell membrane to the outside of the cell. These substances are then picked up by a protein called apolipoprotein A-I (apoA-I), which is produced from the APOA1 gene. ApoA-I, cholesterol, and phospholipids combine to make high-density lipoprotein (HDL), often referred to as "good cholesterol" because high levels of this substance reduce the chances of developing heart and blood vessel (cardiovascular) disease. HDL is a molecule that carries cholesterol and phospholipids through the bloodstream from the body's tissues to the liver. Once in the liver, cholesterol and phospholipids are redistributed to other tissues or removed from the body. The process of removing excess cholesterol from cells is extremely important for balancing cholesterol levels and maintaining cardiovascular health.
Does the ABCA1 gene share characteristics with other genes?
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 ABCA1 gene related to health conditions?
Where is the ABCA1 gene located?
Cytogenetic Location: 9q31.1
Molecular Location on chromosome 9: base pairs 104,781,001 to 104,928,245
The ABCA1 gene is located on the long (q) arm of chromosome 9 at position 31.1.
More precisely, the ABCA1 gene is located from base pair 104,781,001 to base pair 104,928,245 on chromosome 9.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ABCA1?
You and your healthcare professional may find the following resources about ABCA1 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 ABCA1 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 ABCA1?
acids ; apolipoprotein ; apolipoprotein A-I ; ATP ; cardiovascular ; cell ; cell membrane ; cholesterol ; deficiency ; familial ; gene ; HDL ; immune system ; lipoprotein ; molecule ; phospholipids ; protein ; toxic
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (14 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.