ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1)

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.

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.

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?

X-linked adrenoleukodystrophy - caused by mutations in the ABCD1 gene

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.

What other names do people use for the ABCD1 gene or gene products?

• ABCD1_HUMAN
• ALD
• ALDP
• AMN

External Links

Where can I find additional information about ABCD1?

You and your healthcare professional may find the following resources about ABCD1 helpful.

• Educational resources - Information pages
• The Human ATP-Binding Cassette (ABC) Transporter Superfamily: ABCD1
• Gene Reviews - Clinical summary
• Gene Tests - DNA tests ordered by healthcare professionals

You may also be interested in these resources, which are designed for genetics professionals and researchers.

• PubMed - Recent literature
• OMIM - Genetic disorder catalog
• Research Resources - Tools for researchers (5 links)

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.

• What is DNA?
• What is a gene?
• How do genes direct the production of proteins?
• How can gene mutations affect health and development?

These links provide additional genetics resources that may be useful.

• Genetics education
• Human Genome Project
• Resources for Genetic Researchers

What glossary definitions help with understanding ABCD1?

acids ; adrenal glands ; ATP ; cell ; fatty acids ; gene ; kidney ; molecule ; mutation ; peroxisomes ; protein ; sign ; symptom ; tissue ; toxic

References

• Entrez Gene
• Hillebrand M, Verrier SE, Ohlenbusch A, Schäfer A, Söling HD, Wouters FS, Gärtner J. Live cell FRET microscopy: homo- and heterodimerization of two human peroxisomal ABC transporters, the adrenoleukodystrophy protein (ALDP, ABCD1) and PMP70 (ABCD3). J Biol Chem. 2007 Sep 14;282(37):26997-7005. Epub 2007 Jul 3. PubMed citation
• Höftberger R, Kunze M, Weinhofer I, Aboul-Enein F, Voigtländer T, Oezen I, Amann G, Bernheimer H, Budka H, Berger J. Distribution and cellular localization of adrenoleukodystrophy protein in human tissues: implications for X-linked adrenoleukodystrophy. Neurobiol Dis. 2007 Nov;28(2):165-74. Epub 2007 Aug 29. PubMed citation
• Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV, Cutting GR, Wanders RJ, Moser HW. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. Hum Mutat. 2001 Dec;18(6):499-515. Review. PubMed citation
• Moser H, Dubey P, Fatemi A. Progress in X-linked adrenoleukodystrophy. Curr Opin Neurol. 2004 Jun;17(3):263-9. Review. PubMed citation
• OMIM
• Pohl A, Devaux PF, Herrmann A. Function of prokaryotic and eukaryotic ABC proteins in lipid transport. Biochim Biophys Acta. 2005 Mar 21;1733(1):29-52. Epub 2004 Dec 31. Review. PubMed citation
• Wanders RJ, Waterham HR. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet. 2005 Feb;67(2):107-33. Review. PubMed citation
• X-linked Adrenoleukodystrophy Database