View source for ABCD1

{{Short description|Protein-coding gene in humans}}
{{Infobox_gene}}
'''ABCD1''' is a protein that transfers [[fatty acid]]s into [[peroxisome]]s.
== Function ==
The protein encoded by this gene is a member of the superfamily of [[ATP-binding cassette transporter|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 [[peroxisome|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 acid]]s.<ref name="entrez"/>
== 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]].<ref name="entrez">{{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}}</ref>
== Interactions ==
ABCD1 has been shown to [[Protein-protein interaction|interact]] with [[PEX19]].<ref name="pmid11883941">{{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 }}</ref><ref name="pmid10777694">{{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 }}</ref>
== 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]]