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Normal Function
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.
Health Conditions Related to Genetic Changes
X-linked adrenoleukodystrophy
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.
More About This Health ConditionOther Names for This Gene
- ABCD1_HUMAN
- ALD
- ALDP
- AMN
- ATP-binding cassette, sub-family D (ALD), member 1
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Hillebrand M, Verrier SE, Ohlenbusch A, Schafer A, Soling HD, Wouters FS, Gartner 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):26997-27005. doi: 10.1074/jbc.M702122200. Epub 2007 Jul 3. Citation on PubMed
- Hoftberger R, Kunze M, Weinhofer I, Aboul-Enein F, Voigtlander 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. doi: 10.1016/j.nbd.2007.07.007. Epub 2007 Aug 29. Citation on PubMed
- 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. doi: 10.1002/humu.1227. Citation on PubMed
- 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. Citation on PubMed
- 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. doi: 10.1016/j.bbalip.2004.12.007. Epub 2004 Dec 31. Citation on PubMed
- Wanders RJ, Waterham HR. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet. 2005 Feb;67(2):107-33. doi: 10.1111/j.1399-0004.2004.00329.x. Citation on PubMed
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