ABCD1 is a protein that transfers
fatty acid
In chemistry, particularly in biochemistry, a fatty acid is a carboxylic acid with an aliphatic chain, which is either saturated or unsaturated. Most naturally occurring fatty acids have an unbranched chain of an even number of carbon atoms, ...
s 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
In cell biology, an organelle is a specialized subunit, usually within a cell, that has a specific function. The name ''organelle'' comes from the idea that these structures are parts of cells, as organs are to the body, hence ''organelle,'' t ...
. 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.
Clinical significance
Defects in this gene have been identified as the underlying cause of
adrenoleukodystrophy
Adrenoleukodystrophy (ALD) is a disease linked to the X chromosome. It is a result of fatty acid buildup caused by peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in tissues throughout the b ...
, an
X-chromosome
The X chromosome is one of the two sex-determining chromosomes ( allosomes) in many organisms, including mammals (the other is the Y chromosome), and is found in both males and females. It is a part of the XY sex-determination system and XO s ...
recessively inherited demyelinating disorder of the
nervous system
In Biology, biology, the nervous system is the Complex system, highly complex part of an animal that coordinates its Behavior, actions and Sense, sensory information by transmitting action potential, signals to and from different parts of its ...
.
Model organisms
Model organisms have been used in the study of ABCD1 function. A conditional
knockout mouse line, called ''Abcd1
tm1a(EUCOMM)Wtsi''
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.
Male and female animals underwent a standardized
phenotypic screen to determine the effects of deletion.
Twenty four tests were carried out on
mutant mice but no significant abnormalities were observed.
Interactions
ABCD1 has been shown to
interact with
PEX19.
References
Further reading
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External links
GeneReviews/NIH/NCBI/UW entry on X-Linked Adrenoleukodystrophy*
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{{DEFAULTSORT:Abcd1
ATP-binding cassette transporters
Genes mutated in mice