ABCD1
From Wikipedia, the free encyclopedia
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ATP-binding cassette, sub-family D (ALD), member 1
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| Identifiers | ||||||||||||||
| Symbol(s) | ABCD1; ABC42; ALD; ALDP; AMN | |||||||||||||
| External IDs | OMIM: 300371 MGI: 1349215 HomoloGene: 55426 | |||||||||||||
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| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 215 | 11666 | ||||||||||||
| Ensembl | n/a | ENSMUSG00000031378 | ||||||||||||
| Uniprot | n/a | P48410 | ||||||||||||
| Refseq | NM_000033 (mRNA) NP_000024 (protein) |
XM_973209 (mRNA) XP_978303 (protein) |
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| Location | n/a | Chr X: 69.97 - 69.99 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
ABCD1 is a protein that transfers fatty acids into peroxisomes.
A deficiency is associated with adrenoleukodystrophy.
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system.[1]
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[edit] See also
[edit] References
[edit] Further reading
- Aubourg P, Mosser J, Douar AM, et al. (1993). "Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis.". Biochimie 75 (3-4): 293–302. PMID 8507690.
- Moser HW, Powers JM, Smith KD (1996). "Adrenoleukodystrophy: molecular genetics, pathology, and Lorenzo's oil.". Brain Pathol. 5 (3): 259–66. PMID 8520725.
- Dodd A, Rowland SA, Hawkes SL, et al. (1997). "Mutations in the adrenoleukodystrophy gene.". Hum. Mutat. 9 (6): 500–11. doi:. PMID 9195223.
- Kemp S, Pujol A, Waterham HR, et al. (2002). "ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.". Hum. Mutat. 18 (6): 499–515. doi:. PMID 11748843.
- Lan F (2002). "Molecular diagnostics in China.". Clin. Chem. Lab. Med. 39 (12): 1190–4. PMID 11798073.
- Feil R, Aubourg P, Mosser J, et al. (1992). "Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations.". Am. J. Hum. Genet. 49 (6): 1361–71. PMID 1746561.
- Moser HW, Moser AE, Singh I, O'Neill BP (1985). "Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy.". Ann. Neurol. 16 (6): 628–41. doi:. PMID 6524872.
- Migeon BR, Moser HW, Moser AB, et al. (1982). "Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells.". Proc. Natl. Acad. Sci. U.S.A. 78 (8): 5066–70. PMID 6795626.
- Kok F, Neumann S, Sarde CO, et al. (1995). "Mutational analysis of patients with X-linked adrenoleukodystrophy.". Hum. Mutat. 6 (2): 104–15. doi:. PMID 7581394.
- Watkins PA, Gould SJ, Smith MA, et al. (1995). "Altered expression of ALDP in X-linked adrenoleukodystrophy.". Am. J. Hum. Genet. 57 (2): 292–301. PMID 7668254.
- Braun A, Ambach H, Kammerer S, et al. (1995). "Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes.". Am. J. Hum. Genet. 56 (4): 854–61. PMID 7717396.
- Berger J, Molzer B, Faé I, Bernheimer H (1995). "X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes.". Biochem. Biophys. Res. Commun. 205 (3): 1638–43. doi:. PMID 7811247.
- Ligtenberg MJ, Kemp S, Sarde CO, et al. (1995). "Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.". Am. J. Hum. Genet. 56 (1): 44–50. PMID 7825602.
- Fuchs S, Sarde CO, Wedemann H, et al. (1995). "Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).". Hum. Mol. Genet. 3 (10): 1903–5. PMID 7849723.
- Cartier N, Sarde CO, Douar AM, et al. (1994). "Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.". Hum. Mol. Genet. 2 (11): 1949–51. PMID 7904210.
- Sarde CO, Mosser J, Kioschis P, et al. (1994). "Genomic organization of the adrenoleukodystrophy gene.". Genomics 22 (1): 13–20. doi:. PMID 7959759.
- Kobayashi T, Yamada T, Yasutake T, et al. (1994). "Adrenoleukodystrophy gene encodes an 80 kDa membrane protein.". Biochem. Biophys. Res. Commun. 201 (2): 1029–34. doi:. PMID 8002973.
- Mosser J, Lutz Y, Stoeckel ME, et al. (1994). "The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein.". Hum. Mol. Genet. 3 (2): 265–71. PMID 8004093.
- Fanen P, Guidoux S, Sarde CO, et al. (1994). "Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.". J. Clin. Invest. 94 (2): 516–20. PMID 8040304.
- Mosser J, Douar AM, Sarde CO, et al. (1993). "Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.". Nature 361 (6414): 726–30. doi:. PMID 8441467.
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