ABCD1

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ABCD1
Identifiers
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
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

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

X-chromosome recessively inherited demyelinating disorder of the nervous system.[5]

Interactions

ABCD1 has been shown to

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000101986 - Ensembl, May 2017
  2. ^ a b c 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. ^ a b "Entrez Gene: ABCD1 ATP-binding cassette, sub-family D (ALD), member 1".
  6. PMID 11883941
    .
  7. .

Further reading

External links

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

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