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ABCD1

{{Short description|Protein-coding gene in humans}}

{{Infobox_gene}}

ABCD1 is a protein that transfers fatty acids into peroxisomes.

Function

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.

Clinical significance

Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system.{{cite web | title = Entrez Gene: ABCD1 ATP-binding cassette, sub-family D (ALD), member 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=215}}

Interactions

ABCD1 has been shown to interact with PEX19.{{cite journal | vauthors = Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC | title = Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly | journal = Biochem. Biophys. Res. Commun. | volume = 291 | issue = 5 | pages = 1180–6 | date = March 2002 | pmid = 11883941 | doi = 10.1006/bbrc.2002.6568 }}{{cite journal | vauthors = Gloeckner CJ, Mayerhofer PU, Landgraf P, Muntau AC, Holzinger A, Gerber JK, Kammerer S, Adamski J, Roscher AA | title = Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p | journal = Biochem. Biophys. Res. Commun. | volume = 271 | issue = 1 | pages = 144–50 | date = April 2000 | pmid = 10777694 | doi = 10.1006/bbrc.2000.2572 }}

References

{{reflist}}

Further reading

{{refbegin | 2}}

  • {{cite journal | vauthors = Aubourg P, Mosser J, Douar AM, Sarde CO, Lopez J, Mandel JL | title = Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis | journal = Biochimie | volume = 75 | issue = 3–4 | pages = 293–302 | year = 1993 | pmid = 8507690 | doi = 10.1016/0300-9084(93)90089-B }}
  • {{cite journal | vauthors = Moser HW, Powers JM, Smith KD | title = Adrenoleukodystrophy: molecular genetics, pathology, and Lorenzo's oil | journal = Brain Pathol. | volume = 5 | issue = 3 | pages = 259–266 | year = 1996 | pmid = 8520725 | doi = 10.1111/j.1750-3639.1995.tb00602.x | s2cid = 30773757 }}
  • {{cite journal | vauthors = Dodd A, Rowland SA, Hawkes SL, Kennedy MA, Love DR | title = Mutations in the adrenoleukodystrophy gene | journal = Hum. Mutat. | volume = 9 | issue = 6 | pages = 500–511 | year = 1997 | pmid = 9195223 | doi = 10.1002/(SICI)1098-1004(1997)9:6<500::AID-HUMU2>3.0.CO;2-5 | s2cid = 45299437 | doi-access = free }}
  • {{cite journal | vauthors = Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV, Cutting GR, Wanders RJ, Moser HW | title = ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations | journal = Hum. Mutat. | volume = 18 | issue = 6 | pages = 499–515 | year = 2002 | pmid = 11748843 | doi = 10.1002/humu.1227 | s2cid = 40522739 | doi-access = free }}
  • {{cite journal | vauthors = Lan F | title = Molecular diagnostics in China | journal = Clin. Chem. Lab. Med. | volume = 39 | issue = 12 | pages = 1190–1194 | year = 2002 | pmid = 11798073 | doi = 10.1515/CCLM.2001.188 | s2cid = 24269913 }}
  • {{cite journal | vauthors = Feil R, Aubourg P, Mosser J, Douar AM, Le Paslier D, Philippe C, Mandel JL | title = Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations | journal = Am. J. Hum. Genet. | volume = 49 | issue = 6 | pages = 1361–71 | year = 1992 | pmid = 1746561 | pmc = 1686466 }}
  • {{cite journal | vauthors = Moser HW, Moser AE, Singh I, O'Neill BP | title = Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy | journal = Ann. Neurol. | volume = 16 | issue = 6 | pages = 628–641 | year = 1985 | pmid = 6524872 | doi = 10.1002/ana.410160603 | s2cid = 24664178 }}
  • {{cite journal | vauthors = Migeon BR, Moser HW, Moser AB, Axelman J, Sillence D, Norum RA | title = Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 78 | issue = 8 | pages = 5066–5070 | year = 1982 | pmid = 6795626 | pmc = 320333 | doi = 10.1073/pnas.78.8.5066 | doi-access = free }}
  • {{cite journal | vauthors = Kok F, Neumann S, Sarde CO, Zheng S, Wu KH, Wei HM, Bergin J, Watkins PA, Gould S, Sack G | title = Mutational analysis of patients with X-linked adrenoleukodystrophy | journal = Hum. Mutat. | volume = 6 | issue = 2 | pages = 104–115 | year = 1995 | pmid = 7581394 | doi = 10.1002/humu.1380060203 | s2cid = 10766423 | doi-access = free }}
  • {{cite journal | vauthors = Watkins PA, Gould SJ, Smith MA, Braiterman LT, Wei HM, Kok F, Moser AB, Moser HW, Smith KD | title = Altered expression of ALDP in X-linked adrenoleukodystrophy | journal = Am. J. Hum. Genet. | volume = 57 | issue = 2 | pages = 292–301 | year = 1995 | pmid = 7668254 | pmc = 1801558 }}
  • {{cite journal | vauthors = Braun A, Ambach H, Kammerer S, Rolinski B, Stöckler S, Rabl W, Gärtner J, Zierz S, Roscher AA | title = Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes | journal = Am. J. Hum. Genet. | volume = 56 | issue = 4 | pages = 854–61 | year = 1995 | pmid = 7717396 | pmc = 1801211 }}
  • {{cite journal | vauthors = Berger J, Molzer B, Faé I, Bernheimer H | title = X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes | journal = Biochem. Biophys. Res. Commun. | volume = 205 | issue = 3 | pages = 1638–1643 | year = 1995 | pmid = 7811247 | doi = 10.1006/bbrc.1994.2855 }}
  • {{cite journal | vauthors = Ligtenberg MJ, Kemp S, Sarde CO, van Geel BM, Kleijer WJ, Barth PG, Mandel JL, van Oost BA, Bolhuis PA | title = Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein | journal = Am. J. Hum. Genet. | volume = 56 | issue = 1 | pages = 44–50 | year = 1995 | pmid = 7825602 | pmc = 1801307 }}
  • {{cite journal | vauthors = Fuchs S, Sarde CO, Wedemann H, Schwinger E, Mandel JL, Gal A | title = Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD) | journal = Hum. Mol. Genet. | volume = 3 | issue = 10 | pages = 1903–1905 | year = 1995 | pmid = 7849723 | doi = 10.1093/hmg/3.10.1903 }}
  • {{cite journal | vauthors = Cartier N, Sarde CO, Douar AM, Mosser J, Mandel JL, Aubourg P | title = Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy | journal = Hum. Mol. Genet. | volume = 2 | issue = 11 | pages = 1949–1951 | year = 1994 | pmid = 7904210 | doi = 10.1093/hmg/2.11.1949 }}
  • {{cite journal | vauthors = Sarde CO, Mosser J, Kioschis P, Kretz C, Vicaire S, Aubourg P, Poustka A, Mandel JL | title = Genomic organization of the adrenoleukodystrophy gene | journal = Genomics | volume = 22 | issue = 1 | pages = 13–20 | year = 1994 | pmid = 7959759 | doi = 10.1006/geno.1994.1339 }}
  • {{cite journal | vauthors = Kobayashi T, Yamada T, Yasutake T, Shinnoh N, Goto I, Iwaki T | title = Adrenoleukodystrophy gene encodes an 80 kDa membrane protein | journal = Biochem. Biophys. Res. Commun. | volume = 201 | issue = 2 | pages = 1029–1034 | year = 1994 | pmid = 8002973 | doi = 10.1006/bbrc.1994.1805 }}
  • {{cite journal | vauthors = Mosser J, Lutz Y, Stoeckel ME, Sarde CO, Kretz C, Douar AM, Lopez J, Aubourg P, Mandel JL | title = The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein | journal = Hum. Mol. Genet. | volume = 3 | issue = 2 | pages = 265–271 | year = 1994 | pmid = 8004093 | doi = 10.1093/hmg/3.2.265 }}
  • {{cite journal | vauthors = Fanen P, Guidoux S, Sarde CO, Mandel JL, Goossens M, Aubourg P | title = Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene | journal = J. Clin. Invest. | volume = 94 | issue = 2 | pages = 516–520 | year = 1994 | pmid = 8040304 | pmc = 296124 | doi = 10.1172/JCI117363 }}
  • {{cite journal | vauthors = Mosser J, Douar AM, Sarde CO, Kioschis P, Feil R, Moser H, Poustka AM, Mandel JL, Aubourg P | title = Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters | journal = Nature | volume = 361 | issue = 6414 | pages = 726–730 | year = 1993 | pmid = 8441467 | doi = 10.1038/361726a0 | bibcode = 1993Natur.361..726M | s2cid = 4340564 }}

{{refend}}

External links

  • [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=x-ald GeneReviews/NIH/NCBI/UW entry on X-Linked Adrenoleukodystrophy]
  • {{MeshName|ABCD1+protein,+human}}
  • {{UCSC gene info|ABCD1}}
  • {{UCSC gene info|AMN}}

{{NLM content}}

{{ABC transporters}}

{{DEFAULTSORT:Abcd1}}

Category:ATP-binding cassette transporters

Category:Genes mutated in mice