Jump to content

ABCD1

From Wikipedia, the free encyclopedia
(Redirected from ABCD1 (gene))
ABCD1
Identifiers
AliasesABCD1, ABC42, ALD, ALDP, AMN, ATP binding cassette subfamily D member 1, Adrenoleukodystrophy protein
External IDsOMIM: 300371; MGI: 1349215; HomoloGene: 55426; GeneCards: ABCD1; OMA:ABCD1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000033

NM_007435

RefSeq (protein)

NP_000024

NP_031461

Location (UCSC)Chr X: 153.72 – 153.74 MbChr X: 72.76 – 72.78 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5]

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.[5]

Interactions

[edit]

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

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000101986Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031378Ensembl, 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. ^ a b "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. 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. doi:10.1006/bbrc.2000.2572. PMID 10777694.

Further reading

[edit]
[edit]

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