ABCD1

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ATP-binding cassette, sub-family D (ALD), member 1
Identifiers
Symbols ABCD1 ; ABC42; ALD; ALDP; AMN
External IDs OMIM300371 MGI1349215 HomoloGene55426 GeneCards: ABCD1 Gene
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 HG1497_PATCH:
152.89 – 152.91 Mb
Chr X:
73.72 – 73.74 Mb
PubMed search [1] [2]

ABCD1 is a protein that transfers fatty acids into peroxisomes.

Function[edit]

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.[1]

Clinical significance[edit]

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]

Model organisms[edit]

Model organisms have been used in the study of ABCD1 function. A conditional knockout mouse line, called Abcd1tm1a(EUCOMM)Wtsi[6][7] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.[8][9][10]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[4][11] Twenty four tests were carried out on mutant mice but no significant abnormalities were observed.[4]

Interactions[edit]

ABCD1 has been shown to interact with PEX19.[12][13]

References[edit]

  1. ^ a b "Entrez Gene: ABCD1 ATP-binding cassette, sub-family D (ALD), member 1". 
  2. ^ "Salmonella infection data for Abcd1". Wellcome Trust Sanger Institute. 
  3. ^ "Citrobacter infection data for Abcd1". Wellcome Trust Sanger Institute. 
  4. ^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x. 
  5. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  6. ^ "International Knockout Mouse Consortium". 
  7. ^ "Mouse Genome Informatics". 
  8. ^ Skarnes W, Rosen B, West A, Koutsourakis M, Bushell W, Iyer V et al. (June 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750. 
  9. ^ Dolgin E (June 2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  10. ^ Collins F, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  11. ^ van der Weyden L, White J, Adams D, Logan D (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353. 
  12. ^ Mayerhofer P, Kattenfeld T, Roscher A, Muntau A (March 2002). "Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly". Biochem. Biophys. Res. Commun. 291 (5): 1180–6. doi:10.1006/bbrc.2002.6568. PMID 11883941. 
  13. ^ Gloeckner C, Mayerhofer P, Landgraf P, Muntau A, Holzinger A, Gerber J et al. (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. doi:10.1006/bbrc.2000.2572. PMID 10777694. 

Further reading[edit]

External links[edit]

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