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Gene Review

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

Homo sapiens

Synonyms: ABC42, ALD, ALDP, AMN, ATP-binding cassette sub-family D member 1, ...
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Disease relevance of ABCD1


Psychiatry related information on ABCD1


High impact information on ABCD1


Chemical compound and disease context of ABCD1


Biological context of ABCD1

  • These children have the earliest onset (age 7.2 +/- 1.7 years) among the clinical phenotypes for ABCD1 mutations, but onset does not occur at <3 years of age [1].
  • Mutations in DXS1357E and the ABCD1 promoter region have not been described previously [1].
  • Pxa1p, a putative ortholog of ALDP, is involved in peroxisomal beta-oxidation of fatty acids while YKL741 is an open reading frame found by the yeast genome sequencing project [21].
  • ALDP and PMP70 share sequence homology and both are implicated in genetic diseases [21].
  • These results provide the first evidence of both homo- and heterodimerization of mammalian ABC half-transporters and suggest that the loss of ALDP dimerization plays a role in X-ALD pathogenesis [22].

Anatomical context of ABCD1


Associations of ABCD1 with chemical compounds

  • Bidirectional sequencing of the entire coding ALD gene disclosed a cytosine to guanine transversion at nucleotide 1451 in exon five, resulting in substitution of proline 484 by arginine [27].
  • 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) [16].
  • To understand the cell biology and function of mammalian peroxisomal ABC transporters and to determine their role in the pathogenesis of X-ALD we developed a system for expressing functional ABC protein domains in fusion with the maltose binding protein [28].
  • The presence of increased concentrations of serum pipecolic acid and the bile acid intermediate, trihydroxycoprostanic acid, in the neonatal ALD patient are associated with a generalized diminution of peroxisomal activities that was not observed in the patient with X-linked ALD [29].
  • Adrenoleukodystrophy (ALD) is an inherited disorder of fatty acid metabolism marked by accumulation of very long chain saturated fatty acids (VLCFA), especially the 26-carbon acid, hexacosanoic acid (HA), in membranes and tissues [30].

Physical interactions of ABCD1

  • Farnesylated wild-type PEX19p and a farnesylation-deficient mutant PEX19p did not differ in their ability to bind to ALDP [31].

Other interactions of ABCD1

  • Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy [32].
  • The ALDR gene is a candidate for a modifier gene, accounting for the strikingly varying clinical courses of ALD observed even within a family [25].
  • The ALD gene has been positioned on a pulsed-field map between DXS15 and the L1CAM gene, about 650 kb upstream from the color pigment genes [4].
  • The PEX19p interaction occurs in an internal N-terminal region of ALDP which we verified to be important for proper peroxisomal targeting of this protein [31].
  • Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p [31].

Analytical, diagnostic and therapeutic context of ABCD1


  1. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. Corzo, D., Gibson, W., Johnson, K., Mitchell, G., LePage, G., Cox, G.F., Casey, R., Zeiss, C., Tyson, H., Cutting, G.R., Raymond, G.V., Smith, K.D., Watkins, P.A., Moser, A.B., Moser, H.W., Steinberg, S.J. Am. J. Hum. Genet. (2002) [Pubmed]
  2. Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy. Pujol, A., Ferrer, I., Camps, C., Metzger, E., Hindelang, C., Callizot, N., Ruiz, M., Pàmpols, T., Giròs, M., Mandel, J.L. Hum. Mol. Genet. (2004) [Pubmed]
  3. X-linked adrenoleukodystrophy mice demonstrate abnormalities in cholesterol metabolism. Weinhofer, I., Forss-Petter, S., Kunze, M., Zigman, M., Berger, J. FEBS Lett. (2005) [Pubmed]
  4. Genomic organization of the adrenoleukodystrophy gene. Sarde, C.O., Mosser, J., Kioschis, P., Kretz, C., Vicaire, S., Aubourg, P., Poustka, A., Mandel, J.L. Genomics (1994) [Pubmed]
  5. Adrenomyeloneuropathy: report of a new mutation in a French Canadian female. Dionne, A., Brunet, D., McCampbell, A., Dupré, N. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. (2005) [Pubmed]
  6. The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency. Oberlé, I., Drayna, D., Camerino, G., White, R., Mandel, J.L. Proc. Natl. Acad. Sci. U.S.A. (1985) [Pubmed]
  7. Comparison of three different interventions for the correction of HIV-associated facial lipoatrophy: a prospective study. Guaraldi, G., Orlando, G., De Fazio, D., De Lorenzi, I., Rottino, A., De Santis, G., Pedone, A., Spaggiari, A., Baccarani, A., Borghi, V., Esposito, R. Antivir. Ther. (Lond.) (2005) [Pubmed]
  8. Presenile-onset cerebral adrenoleukodystrophy presenting as Balint's syndrome and dementia. Uyama, E., Iwagoe, H., Maeda, J., Nakamura, M., Terasaki, T., Ando, M. Neurology (1993) [Pubmed]
  9. Fas antigen expression in brains of patients with Alzheimer-type dementia. Nishimura, T., Akiyama, H., Yonehara, S., Kondo, H., Ikeda, K., Kato, M., Iseki, E., Kosaka, K. Brain Res. (1995) [Pubmed]
  10. Immunohistochemical study of hyaluronate receptor (CD44) in alcoholic liver disease. Urashima, S., Tsutsumi, M., Ozaki, K., Tsuchishima, M., Shimanaka, K., Ueshima, Y., Takase, S. Alcohol. Clin. Exp. Res. (2000) [Pubmed]
  11. Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Ferdinandusse, S., Denis, S., Clayton, P.T., Graham, A., Rees, J.E., Allen, J.T., McLean, B.N., Brown, A.Y., Vreken, P., Waterham, H.R., Wanders, R.J. Nat. Genet. (2000) [Pubmed]
  12. Additional follow-up from the ABCD trial in patients with type 2 diabetes and hypertension. Schrier, R.W., Estacio, R.O. N. Engl. J. Med. (2000) [Pubmed]
  13. Lovastatin for X-linked adrenoleukodystrophy. Singh, I., Khan, M., Key, L., Pai, S. N. Engl. J. Med. (1998) [Pubmed]
  14. The effect of nisoldipine as compared with enalapril on cardiovascular outcomes in patients with non-insulin-dependent diabetes and hypertension. Estacio, R.O., Jeffers, B.W., Hiatt, W.R., Biggerstaff, S.L., Gifford, N., Schrier, R.W. N. Engl. J. Med. (1998) [Pubmed]
  15. Lorenzo's oil and thrombocytopenia in patients with adrenoleukodystrophy. Zinkham, W.H., Kickler, T., Borel, J., Moser, H.W. N. Engl. J. Med. (1993) [Pubmed]
  16. 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]
  17. Antibacterial activity of lysozyme and lactoferrin is inhibited by binding of advanced glycation-modified proteins to a conserved motif. Li, Y.M., Tan, A.X., Vlassara, H. Nat. Med. (1995) [Pubmed]
  18. Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy. Singh, I., Moser, A.E., Goldfischer, S., Moser, H.W. Proc. Natl. Acad. Sci. U.S.A. (1984) [Pubmed]
  19. Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy. Lazo, O., Contreras, M., Hashmi, M., Stanley, W., Irazu, C., Singh, I. Proc. Natl. Acad. Sci. U.S.A. (1988) [Pubmed]
  20. Adrenoleukodystrophy: dietary oleic acid lowers hexacosanoate levels. Rizzo, W.B., Phillips, M.W., Dammann, A.L., Leshner, R.T., Jennings, S.S., Avigan, J., Proud, V.K. Ann. Neurol. (1987) [Pubmed]
  21. A Saccharomyces cerevisiae homolog of the human adrenoleukodystrophy transporter is a heterodimer of two half ATP-binding cassette transporters. Shani, N., Valle, D. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  22. Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters. Liu, L.X., Janvier, K., Berteaux-Lecellier, V., Cartier, N., Benarous, R., Aubourg, P. J. Biol. Chem. (1999) [Pubmed]
  23. 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]
  24. Identification of a fourth half ABC transporter in the human peroxisomal membrane. Shani, N., Jimenez-Sanchez, G., Steel, G., Dean, M., Valle, D. Hum. Mol. Genet. (1997) [Pubmed]
  25. 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]
  26. Evaluation of pharmacological induction of fatty acid beta-oxidation in X-linked adrenoleukodystrophy. McGuinness, M.C., Zhang, H.P., Smith, K.D. Mol. Genet. Metab. (2001) [Pubmed]
  27. X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes. Berger, J., Molzer, B., Faé, I., Bernheimer, H. Biochem. Biophys. Res. Commun. (1994) [Pubmed]
  28. Functional characterization of the adrenoleukodystrophy protein (ALDP) and disease pathogenesis. Gärtner, J., Dehmel, T., Klusmann, A., Roerig, P. Endocr. Res. (2002) [Pubmed]
  29. Peroxisomal defects in neonatal-onset and X-linked adrenoleukodystrophies. Goldfischer, S., Collins, J., Rapin, I., Coltoff-Schiller, B., Chang, C.H., Nigro, M., Black, V.H., Javitt, N.B., Moser, H.W., Lazarow, P.B. Science (1985) [Pubmed]
  30. Interactions of a very long chain fatty acid with model membranes and serum albumin. Implications for the pathogenesis of adrenoleukodystrophy. Ho, J.K., Moser, H., Kishimoto, Y., Hamilton, J.A. J. Clin. Invest. (1995) [Pubmed]
  31. Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p. Gloeckner, C.J., Mayerhofer, P.U., Landgraf, P., Muntau, A.C., Holzinger, A., Gerber, J.K., Kammerer, S., Adamski, J., Roscher, A.A. Biochem. Biophys. Res. Commun. (2000) [Pubmed]
  32. Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. Asheuer, M., Bieche, I., Laurendeau, I., Moser, A., Hainque, B., Vidaud, M., Aubourg, P. Hum. Mol. Genet. (2005) [Pubmed]
  33. Adrenoleukodystrophy protein-deficient mice represent abnormality of very long chain fatty acid metabolism. Kobayashi, T., Shinnoh, N., Kondo, A., Yamada, T. Biochem. Biophys. Res. Commun. (1997) [Pubmed]
  34. ATP-binding and -hydrolysis activities of ALDP (ABCD1) and ALDRP (ABCD2), human peroxisomal ABC proteins, overexpressed in Sf21 cells. Morita, M., Kurisu, M., Kashiwayama, Y., Yokota, S., Imanaka, T. Biol. Pharm. Bull. (2006) [Pubmed]
  35. Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene. Guimarães, C.P., Lemos, M., Sá-Miranda, C., Azevedo, J.E. Mol. Genet. Metab. (2002) [Pubmed]
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