ABCD1

ABCD1
Identifiers
Aliases	ABCD1 , ABC42, ALD, ALDP, AMN, ATP binding cassette subfamily D member 1, Adrenoleukodystrophy protein
External IDs	OMIM: 300371; MGI: 1349215; HomoloGene: 55426; GeneCards: ABCD1; OMA:ABCD1 - orthologs
Gene location (Human) Chr. X chromosome (human) [1] Band Xq28 Start 153,724,856 bp [1] End 153,744,755 bp [1]
Gene location (Mouse) Chr. X chromosome (mouse) [2] Band X A7.3|X 37.39 cM Start 72,760,203 bp [2] End 72,782,140 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of ileum left adrenal cortex right adrenal gland right adrenal cortex monocyte apex of heart gastrocnemius muscle muscle of thigh stromal cell of endometrium body of uterus Top expressed in granulocyte gastrula jejunum ankle tibiofemoral joint myocardium of ventricle right ventricle digastric muscle internal carotid artery thoracic diaphragm More reference expression data BioGPS n/a
Gene ontology Molecular function ATPase-coupled transmembrane transporter activity nucleotide binding protein homodimerization activity transporter activity ATPase activity protein binding identical protein binding enzyme binding long-chain fatty acid transporter activity ATP binding Cellular component cytoplasm integral component of membrane cytosol membrane peroxisomal membrane peroxisome mitochondrion integral component of peroxisomal membrane perinuclear region of cytoplasm Biological process long-chain fatty acid import into peroxisome linoleic acid metabolic process peroxisome organization alpha-linolenic acid metabolic process long-chain fatty acid catabolic process peroxisomal membrane transport fatty acid beta-oxidation using acyl-CoA oxidase transmembrane transport very long-chain fatty acid catabolic process fatty acid beta-oxidation transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 215 11666 Ensembl ENSG00000101986 ENSMUSG00000031378 UniProt P33897 P48410 RefSeq (mRNA) NM_000033 NM_007435 RefSeq (protein) NP_000024 NP_031461 Location (UCSC) Chr X: 153.72 – 153.74 Mb Chr X: 72.76 – 72.78 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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. ^[5]

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. ^[5]

Interactions

ABCD1 has been shown to interact with PEX19. ^{[6] [7]}

References

1. GRCh38: Ensembl release 89: ENSG00000101986 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000031378 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: ABCD1 ATP-binding cassette, sub-family D (ALD), member 1".
6. Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC (March 2002). "Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly". Biochem. Biophys. Res. Commun. 291 (5): 1180–6. Bibcode:2002BBRC..291.1180M. doi:10.1006/bbrc.2002.6568. PMID   11883941.
7. Gloeckner CJ, Mayerhofer PU, Landgraf P, Muntau AC, Holzinger A, Gerber JK, Kammerer S, Adamski J, Roscher AA (April 2000). "Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p". Biochem. Biophys. Res. Commun. 271 (1): 144–50. Bibcode:2000BBRC..271..144G. doi:10.1006/bbrc.2000.2572. PMID   10777694.

Further reading

• Aubourg P, Mosser J, Douar AM, Sarde CO, Lopez J, Mandel JL (1993). "Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis". Biochimie. 75 (3–4): 293–302. doi:10.1016/0300-9084(93)90089-B. PMID   8507690.
• Moser HW, Powers JM, Smith KD (1996). "Adrenoleukodystrophy: molecular genetics, pathology, and Lorenzo's oil". Brain Pathol. 5 (3): 259–266. doi:10.1111/j.1750-3639.1995.tb00602.x. PMID   8520725. S2CID   30773757.
• Dodd A, Rowland SA, Hawkes SL, Kennedy MA, Love DR (1997). "Mutations in the adrenoleukodystrophy gene". Hum. Mutat. 9 (6): 500–511. doi: 10.1002/(SICI)1098-1004(1997)9:6<500::AID-HUMU2>3.0.CO;2-5 . PMID   9195223. S2CID   45299437.
• Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV, Cutting GR, Wanders RJ, Moser HW (2002). "ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations". Hum. Mutat. 18 (6): 499–515. doi: 10.1002/humu.1227 . PMID   11748843. S2CID   40522739.
• Lan F (2002). "Molecular diagnostics in China". Clin. Chem. Lab. Med. 39 (12): 1190–1194. doi:10.1515/CCLM.2001.188. PMID   11798073. S2CID   24269913.
• Feil R, Aubourg P, Mosser J, Douar AM, Le Paslier D, Philippe C, Mandel JL (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. PMC   1686466 . 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): 628–641. doi:10.1002/ana.410160603. PMID   6524872. S2CID   24664178.
• Migeon BR, Moser HW, Moser AB, Axelman J, Sillence D, Norum RA (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): 5066–5070. doi: 10.1073/pnas.78.8.5066 . PMC   320333 . PMID   6795626.
• Kok F, Neumann S, Sarde CO, Zheng S, Wu KH, Wei HM, Bergin J, Watkins PA, Gould S, Sack G (1995). "Mutational analysis of patients with X-linked adrenoleukodystrophy". Hum. Mutat. 6 (2): 104–115. doi: 10.1002/humu.1380060203 . PMID   7581394. S2CID   10766423.
• Watkins PA, Gould SJ, Smith MA, Braiterman LT, Wei HM, Kok F, Moser AB, Moser HW, Smith KD (1995). "Altered expression of ALDP in X-linked adrenoleukodystrophy". Am. J. Hum. Genet. 57 (2): 292–301. PMC   1801558 . PMID   7668254.
• Braun A, Ambach H, Kammerer S, Rolinski B, Stöckler S, Rabl W, Gärtner J, Zierz S, Roscher AA (1995). "Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes". Am. J. Hum. Genet. 56 (4): 854–61. PMC   1801211 . 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): 1638–1643. doi:10.1006/bbrc.1994.2855. PMID   7811247.
• Ligtenberg MJ, Kemp S, Sarde CO, van Geel BM, Kleijer WJ, Barth PG, Mandel JL, van Oost BA, Bolhuis PA (1995). "Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein". Am. J. Hum. Genet. 56 (1): 44–50. PMC   1801307 . PMID   7825602.
• Fuchs S, Sarde CO, Wedemann H, Schwinger E, Mandel JL, Gal A (1995). "Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)". Hum. Mol. Genet. 3 (10): 1903–1905. doi:10.1093/hmg/3.10.1903. PMID   7849723.
• Cartier N, Sarde CO, Douar AM, Mosser J, Mandel JL, Aubourg P (1994). "Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy". Hum. Mol. Genet. 2 (11): 1949–1951. doi:10.1093/hmg/2.11.1949. PMID   7904210.
• Sarde CO, Mosser J, Kioschis P, Kretz C, Vicaire S, Aubourg P, Poustka A, Mandel JL (1994). "Genomic organization of the adrenoleukodystrophy gene". Genomics. 22 (1): 13–20. doi:10.1006/geno.1994.1339. PMID   7959759.
• Kobayashi T, Yamada T, Yasutake T, Shinnoh N, Goto I, Iwaki T (1994). "Adrenoleukodystrophy gene encodes an 80 kDa membrane protein". Biochem. Biophys. Res. Commun. 201 (2): 1029–1034. Bibcode:1994BBRC..201.1029K. doi:10.1006/bbrc.1994.1805. PMID   8002973.
• Mosser J, Lutz Y, Stoeckel ME, Sarde CO, Kretz C, Douar AM, Lopez J, Aubourg P, Mandel JL (1994). "The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein". Hum. Mol. Genet. 3 (2): 265–271. doi:10.1093/hmg/3.2.265. PMID   8004093.
• Fanen P, Guidoux S, Sarde CO, Mandel JL, Goossens M, Aubourg P (1994). "Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene". J. Clin. Invest. 94 (2): 516–520. doi:10.1172/JCI117363. PMC   296124 . PMID   8040304.
• Mosser J, Douar AM, Sarde CO, Kioschis P, Feil R, Moser H, Poustka AM, Mandel JL, Aubourg P (1993). "Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters". Nature. 361 (6414): 726–730. Bibcode:1993Natur.361..726M. doi:10.1038/361726a0. PMID   8441467. S2CID   4340564.

External links

• GeneReviews/NIH/NCBI/UW entry on X-Linked Adrenoleukodystrophy
• ABCD1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Human ABCD1 genome location and ABCD1 gene details page in the UCSC Genome Browser .
• Human AMN genome location and AMN gene details page in the UCSC Genome Browser .

This article incorporates text from the United States National Library of Medicine, which is in the public domain.