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Gene Review

ABCD2  -  ATP-binding cassette, sub-family D (ALD),...

Homo sapiens

Synonyms: ABC39, ALD1, ALDL1, ALDR, ALDRP, ...
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Disease relevance of ABCD2


High impact information on ABCD2


Chemical compound and disease context of ABCD2

  • The detection of increased amounts of very long chain fatty acids in the cholesterol ester fraction from formalin tissue in one patient was consistent with a diagnosis of an adrenoleukodystrophy-like condition, while the marked reduction in beta-galactocerebrosidase activity in a frozen brain sample of the second patient indicate Krabbe disease [2].

Biological context of ABCD2

  • Moreover, we were able to restore the peroxisomal beta-oxidation defect in the liver of ALDP-deficient mice by stimulation of ALDRP and PMP70 gene expression through a dietary treatment with the peroxisome proliferator fenofibrate [6].
  • ABCD2 (ALDR) displays partial functional redundancy because when overexpressed, it is able to correct the X-ALD biochemical phenotype [7].
  • The human ALDR gene extends over 33 kb on chromosome 12q12 and consists of 10 exons [8].
  • We report here the exclusively peroxisomal localization of human ALDRP, the full length cDNA, the transcriptional start, and 2.4 kb of the putative promoter region DNA sequence [8].
  • We report here on the chromosomal mapping of the adrenoleukodystrophy-related (ALDR) gene on both the human and the mouse genomes [9].

Anatomical context of ABCD2

  • By using transient and stable overexpression of human cDNAs encoding ALDP and its closest relative ALDRP, we could restore the impaired peroxisomal beta-oxidation in fibroblasts of X-ALD patients [6].
  • Cholesterol lowering activates human ABCD2 in cultured cells [10].
  • Mirror expression of adrenoleukodystrophy and adrenoleukodystrophy related genes in mouse tissues and human cell lines [11].

Associations of ABCD2 with chemical compounds

  • Characterization of the adrenoleukodystrophy-related (ALDR, ABCD2) gene promoter: inductibility by retinoic acid and forskolin [12].
  • No differences were noted in daily retinol intake, but subjects with ALD had significantly lower concentrations of retinol in plasma (ALD1: 1.81+/-0.17 micromol/l [mean+/-S.E.M.]; ALD2: 1.95+/-0.24 micromol/l; ALD3: 0.67+/-0.13 micromol/l) compared to controls (2.76+/-0.19 micromol/l) [13].
  • Preincubating HMM in dexamethasone-inhibited LDL degradation (230 +/- 12 vs. 515 +/- 21 ng/mg cell protein X 18 h, P less than 0.001) but stimulated ALDL degradation (5.3 +/- 0.5 vs. 2.5 +/- 0.3 micrograms/mg X 18 h, P less than 0.01) [4].
  • The uptake and degradation of LDL-PG complexes stimulated macrophage incorporation of 14C-oleic acid into cholesteryl oleate 4- to 5-fold over LDL alone; however, esterification was significantly less than that observed with ALDL, even though more LDL-PG was degraded [14].
  • Already after 2 weeks of abstinence, the urinary excretion rate of NA had nearly normalized in ALD1 but remained unchanged in ALD2 [15].

Other interactions of ABCD2


Analytical, diagnostic and therapeutic context of ABCD2

  • Immunofluorescence analysis demonstrated that the functional replacement of ALDP by ALDRP was not due to stabilization of the mutated ALDP itself [6].
  • Our data will enable sequence analysis in X-ALD patients to determine a possible role of ALDRP as a modifier and provide tools for the study of therapeutic ALDRP induction [8].
  • In cell culture, SREBP1c-mediated Abcd2 induction is counteracted by ligand-activated LXRalpha [10].
  • Subfractionation of acetylated very low density lipoprotein (AVLDL) by ultracentrifugation in a discontinuous NaCl gradient demonstrated that AVLDL subfractions were equally effective in competing for 125I-ALDL uptake by macrophages when compared on the basis of particle number [18].


  1. Differential induction of mRNAs for the glycolytic and ethanolic fermentative pathways by hypoxia and anoxia in maize seedlings. Andrews, D.L., MacAlpine, D.M., Johnson, J.R., Kelley, P.M., Cobb, B.G., Drew, M.C. Plant Physiol. (1994) [Pubmed]
  2. Differentiation of rare leukodystrophies by post-mortem morphological and biochemical studies: female adrenoleukodystrophy-like disease and late-onset Krabbe disease. Gullotta, F., Hughes, J.L., Wittkowski, W., Poulos, A., Sträter, R., Bernheimer, H., Harzer, K. Neuropediatrics. (1996) [Pubmed]
  3. Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy. Kemp, S., Wei, H.M., Lu, J.F., Braiterman, L.T., McGuinness, M.C., Moser, A.B., Watkins, P.A., Smith, K.D. Nat. Med. (1998) [Pubmed]
  4. Dexamethasone modulates lipoprotein metabolism in cultured human monocyte-derived macrophages. Stimulation of scavenger receptor activity. Hirsch, L.J., Mazzone, T. J. Clin. Invest. (1986) [Pubmed]
  5. A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern. Lombard-Platet, G., Savary, S., Sarde, C.O., Mandel, J.L., Chimini, G. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  6. Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy. Netik, A., Forss-Petter, S., Holzinger, A., Molzer, B., Unterrainer, G., Berger, J. Hum. Mol. Genet. (1999) [Pubmed]
  7. Thyroid hormone induction of the adrenoleukodystrophy-related gene (ABCD2). Fourcade, S., Savary, S., Gondcaille, C., Berger, J., Netik, A., Cadepond, F., El Etr, M., Molzer, B., Bugaut, M. Mol. Pharmacol. (2003) [Pubmed]
  8. Full length cDNA cloning, promoter sequence, and genomic organization of the human adrenoleukodystrophy related (ALDR) gene functionally redundant to the gene responsible for X-linked adrenoleukodystrophy. Holzinger, A., Mayerhofer, P., Berger, J., Lichtner, P., Kammerer, S., Roscher, A.A. Biochem. Biophys. Res. Commun. (1999) [Pubmed]
  9. Chromosomal localization of the adrenoleukodystrophy-related gene in man and mice. Savary, S., Troffer-Charlier, N., Gyapay, G., Mattei, M.G., Chimini, G. Eur. J. Hum. Genet. (1997) [Pubmed]
  10. Liver X receptor alpha interferes with SREBP1c-mediated Abcd2 expression. Novel cross-talk in gene regulation. Weinhofer, I., Kunze, M., Rampler, H., Bookout, A.L., Forss-Petter, S., Berger, J. J. Biol. Chem. (2005) [Pubmed]
  11. Mirror expression of adrenoleukodystrophy and adrenoleukodystrophy related genes in mouse tissues and human cell lines. Troffer-Charlier, N., Doerflinger, N., Metzger, E., Fouquet, F., Mandel, J.L., Aubourg, P. Eur. J. Cell Biol. (1998) [Pubmed]
  12. Characterization of the adrenoleukodystrophy-related (ALDR, ABCD2) gene promoter: inductibility by retinoic acid and forskolin. Pujol, A., Troffer-Charlier, N., Metzger, E., Chimini, G., Mandel, J.L. Genomics (2000) [Pubmed]
  13. Saturation of retinol-binding protein correlates closely to the severity of alcohol-induced liver disease. Wagnerberger, S., Schäfer, C., Bode, C., Parlesak, A. Alcohol (2006) [Pubmed]
  14. Insoluble low-density lipoprotein-proteoglycan complexes enhance cholesteryl ester accumulation in macrophages. Salisbury, B.G., Falcone, D.J., Minick, C.R. Am. J. Pathol. (1985) [Pubmed]
  15. Reversibility of increased formation of catecholamines in patients with alcoholic liver disease. Parlesak, A., Reisenauer, C., Biermann, J., Ratge, D., Bode, J.C., Bode, C. Scand. J. Gastroenterol. (2004) [Pubmed]
  16. cDNA cloning and mRNA expression of the human adrenoleukodystrophy related protein (ALDRP), a peroxisomal ABC transporter. Holzinger, A., Kammerer, S., Berger, J., Roscher, A.A. Biochem. Biophys. Res. Commun. (1997) [Pubmed]
  17. Pharmacological induction of peroxisomes in peroxisome biogenesis disorders. Wei, H., Kemp, S., McGuinness, M.C., Moser, A.B., Smith, K.D. Ann. Neurol. (2000) [Pubmed]
  18. Modification of very low density lipoproteins leads to macrophage scavenger receptor uptake and cholesteryl ester deposition. Mazzone, T., Lopez, C., Bergstraesser, L. Arteriosclerosis (1987) [Pubmed]
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