ABCD1


ABCD1

ABCD1 is a protein that transfers fatty acids into peroxisomes.

A deficiency is associated with adrenoleukodystrophy.

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: ABCD1 ATP-binding cassette, sub-family D (ALD), member 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=215| accessdate = ]

ee also

* ATP-binding cassette transporter

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Aubourg P, Mosser J, Douar AM, "et al." |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=
*cite journal | author=Moser HW, Powers JM, Smith KD |title=Adrenoleukodystrophy: molecular genetics, pathology, and Lorenzo's oil. |journal=Brain Pathol. |volume=5 |issue= 3 |pages= 259–66 |year= 1996 |pmid= 8520725 |doi=
*cite journal | author=Dodd A, Rowland SA, Hawkes SL, "et al." |title=Mutations in the adrenoleukodystrophy gene. |journal=Hum. Mutat. |volume=9 |issue= 6 |pages= 500–11 |year= 1997 |pmid= 9195223 |doi= 10.1002/(SICI)1098-1004(1997)9:6<500::AID-HUMU2>3.0.CO;2-5 |doilabel=10.1002/(SICI)1098-1004(1997)9:6500::AID-HUMU23.0.CO;2-5
*cite journal | author=Kemp S, Pujol A, Waterham HR, "et al." |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
*cite journal | author=Lan F |title=Molecular diagnostics in China. |journal=Clin. Chem. Lab. Med. |volume=39 |issue= 12 |pages= 1190–4 |year= 2002 |pmid= 11798073 |doi=
*cite journal | author=Feil R, Aubourg P, Mosser J, "et al." |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 |doi=
*cite journal | author=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= 628–41 |year= 1985 |pmid= 6524872 |doi= 10.1002/ana.410160603
*cite journal | author=Migeon BR, Moser HW, Moser AB, "et al." |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= 5066–70 |year= 1982 |pmid= 6795626 |doi=
*cite journal | author=Kok F, Neumann S, Sarde CO, "et al." |title=Mutational analysis of patients with X-linked adrenoleukodystrophy. |journal=Hum. Mutat. |volume=6 |issue= 2 |pages= 104–15 |year= 1995 |pmid= 7581394 |doi= 10.1002/humu.1380060203
*cite journal | author=Watkins PA, Gould SJ, Smith MA, "et al." |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 |doi=
*cite journal | author=Braun A, Ambach H, Kammerer S, "et al." |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 |doi=
*cite journal | author=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= 1638–43 |year= 1995 |pmid= 7811247 |doi= 10.1006/bbrc.1994.2855
*cite journal | author=Ligtenberg MJ, Kemp S, Sarde CO, "et al." |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 |doi=
*cite journal | author=Fuchs S, Sarde CO, Wedemann H, "et al." |title=Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD). |journal=Hum. Mol. Genet. |volume=3 |issue= 10 |pages= 1903–5 |year= 1995 |pmid= 7849723 |doi=
*cite journal | author=Cartier N, Sarde CO, Douar AM, "et al." |title=Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy. |journal=Hum. Mol. Genet. |volume=2 |issue= 11 |pages= 1949–51 |year= 1994 |pmid= 7904210 |doi=
*cite journal | author=Sarde CO, Mosser J, Kioschis P, "et al." |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 | author=Kobayashi T, Yamada T, Yasutake T, "et al." |title=Adrenoleukodystrophy gene encodes an 80 kDa membrane protein. |journal=Biochem. Biophys. Res. Commun. |volume=201 |issue= 2 |pages= 1029–34 |year= 1994 |pmid= 8002973 |doi= 10.1006/bbrc.1994.1805
*cite journal | author=Mosser J, Lutz Y, Stoeckel ME, "et al." |title=The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein. |journal=Hum. Mol. Genet. |volume=3 |issue= 2 |pages= 265–71 |year= 1994 |pmid= 8004093 |doi=
*cite journal | author=Fanen P, Guidoux S, Sarde CO, "et al." |title=Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. |journal=J. Clin. Invest. |volume=94 |issue= 2 |pages= 516–20 |year= 1994 |pmid= 8040304 |doi=
*cite journal | author=Mosser J, Douar AM, Sarde CO, "et al." |title=Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. |journal=Nature |volume=361 |issue= 6414 |pages= 726–30 |year= 1993 |pmid= 8441467 |doi= 10.1038/361726a0

External links

*

PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes


Wikimedia Foundation. 2010.

Look at other dictionaries:

  • Adrenoleukodystrophy — Classification and external resources T2 weighted axial scan at the level of the caudate heads demonstrates marked loss of posterior white matter, with reduced volume and increased signal intensity. The anterior white matter is spared. Features… …   Wikipedia

  • Adrenoleucodystrophie liee a l'X — Adrénoleucodystrophie liée à l X Adrénoleucodystrophie liée à l X Autre nom {{{Autre nom}}} Référence MIM …   Wikipédia en Français

  • Adrénoleucodystrophie — liée à l X Adrénoleucodystrophie liée à l X Autre nom {{{Autre nom}}} Référence MIM …   Wikipédia en Français

  • Adrénoleucodystrophie Liée À L'X — Autre nom {{{Autre nom}}} Référence MIM …   Wikipédia en Français

  • Adrénoleucodystrophie liée à l'X — Référence MIM ncbi.nlm.nih.gov Transmission Récessive liée à l X Chromosome Xq28 Gène ABCD1 Mutation Ponctuelle …   Wikipédia en Français

  • Adrénoleucodystrophie liée à l'x — Autre nom {{{Autre nom}}} Référence MIM …   Wikipédia en Français

  • Laucodystrophie — Leucodystrophie Les leucodystrophies sont des maladies rares caractérisées par un processus de démyélinisation du système nerveux central et périphérique, d apparence primitive et non inflammatoire et aboutissant à une sclérose cérébrale. Elles… …   Wikipédia en Français

  • Leucodystrophie — Les leucodystrophies sont des maladies rares caractérisées par un processus de démyélinisation du système nerveux central et périphérique, d apparence primitive et non inflammatoire et aboutissant à une sclérose cérébrale. Elles sont presque… …   Wikipédia en Français

  • Cystic fibrosis — Classification and external resources A breathing treatment for cystic fibrosis, using a mask nebuliser and a ThAIRapy Vest ICD 10 E …   Wikipedia

  • Dilated cardiomyopathy — Classification and external resources ICD 10 I42.0 ICD 9 425.4 …   Wikipedia