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Genetics Home Reference: your guide to understanding genetic conditions
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ABCD1

Reviewed July 2013

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 located in the membranes of cell structures called peroxisomes. Peroxisomes are small sacs within cells that process many types of molecules. ALDP brings a group of fats called very long-chain fatty acids (VLCFAs) into peroxisomes, where they are broken down.

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 (ATPases).

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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) 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 650 mutations in the ABCD1 gene have been found to cause X-linked adrenoleukodystrophy. This condition is characterized by varying degrees of cognitive and movement problems as well as hormone imbalances. The mutations that cause X-linked adrenoleukodystrophy 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, VLCFAs are not broken down, and they 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. Research suggests that the accumulation of VLCFAs triggers an inflammatory response in the brain, which could lead to the breakdown of myelin. 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 153,724,867 to 153,744,761

The ABCD1 gene is located on the long (q) arm of the X chromosome at position 28.

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 153,724,867 to base pair 153,744,761 on the X chromosome.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about ABCD1?

You and your healthcare professional may find the following resources about ABCD1 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 ABCD1 gene or gene products?

  • ABCD1_HUMAN
  • ALD
  • ALDP
  • AMN

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding ABCD1?

acids ; adrenal glands ; ATP ; breakdown ; cell ; fatty acids ; gene ; hormone ; kidney ; oxidation ; peroxisomes ; protein ; toxic

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/17609205?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/17761426?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/11748843?dopt=Abstract)
  • Morita M, Imanaka T. Peroxisomal ABC transporters: structure, function and role in disease. Biochim Biophys Acta. 2012 Sep;1822(9):1387-96. doi: 10.1016/j.bbadis.2012.02.009. Epub 2012 Feb 17. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22366764?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/215)
  • OMIM: ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 1 (http://omim.org/entry/300371)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/15749056?dopt=Abstract)
  • Wanders RJ, Waterham HR. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet. 2005 Feb;67(2):107-33. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15679822?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2013
Published: July 28, 2014