Reviewed September 2008
What is the official name of the ABCD1 gene?
The official name of this gene is “ATP-binding cassette, sub-family D (ALD), member 1.”
ABCD1 is the gene's official symbol. The ABCD1 gene is also known by other names, listed below.
What is the normal function of the ABCD1 gene?
The ABCD1 gene provides instructions for producing the adrenoleukodystrophy protein (ALDP). ALDP is one component of a transport protein that is located in the membrane surrounding peroxisomes. Peroxisomes are small sacs within cells that process many types of molecules. ALDP is called a "half-transporter" because it needs to join with another identical or closely related protein in order to form a complete, functional transport protein. Although the exact function of this protein has not been determined, it may transport a molecule necessary for the breakdown of very long-chain fatty acids (VLCFAs) in peroxisomes.
Does the ABCD1 gene share characteristics with other genes?
The ABCD1 gene belongs to a family of genes called ABC (ATP-binding cassette transporters). It also belongs to a family of genes called ATP (ATPase superfamily).
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 ABCD1 gene related to health conditions?
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X-linked adrenoleukodystrophy - caused by mutations in the ABCD1 gene
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More than 480 mutations in the ABCD1 gene have been found to cause X-linked adrenoleukodystrophy. These mutations prevent the production of any ALDP in about 75 percent of people with this disorder. Other people with X-linked adrenoleukodystrophy can produce ALDP, but the protein is not able to perform its normal function. With little or no functional ALDP, very long-chain fatty acids build up in the body. The accumulation of these fats may be toxic to the adrenal glands (small glands on top of each kidney) and to the fatty layer of insulation (myelin) that surrounds many nerves in the body. The destruction of these tissues leads to the signs and symptoms of X-linked adrenoleukodystrophy.
Where is the ABCD1 gene located?
Cytogenetic Location: Xq28
Molecular Location on the X chromosome: base pairs 152,643,529 to 152,663,374
The ABCD1 gene is located on the long (q) arm of the X chromosome at position 28.
More precisely, the ABCD1 gene is located from base pair 152,643,529 to base pair 152,663,374 on the X chromosome.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ABCD1?
What other names do people use for the ABCD1 gene or gene products?
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 ABCD1?
acids ;
adrenal glands ;
ATP ;
cell ;
fatty acids ;
gene ;
kidney ;
molecule ;
mutation ;
peroxisomes ;
protein ;
sign ;
symptom ;
tissue ;
toxic
You may find definitions for these and many other terms in the Genetics Home Reference
Glossary.
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.
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