ABCD1

ABCD1 is a protein that transfers is_associated_with::fatty acids into is_associated_with::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 is_associated_with::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 is_associated_with::very long chain fatty acids.

Clinical significance
Defects in this gene have been identified as the underlying cause of is_associated_with::adrenoleukodystrophy, an is_associated_with::X-chromosome recessively inherited demyelinating disorder of the is_associated_with::nervous system.

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

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

Interactions
ABCD1 has been shown to interact with is_associated_with::PEX19.