ABCD1

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. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008]

Full Name

ATP Binding Cassette Subfamily D Member 1

Function

Plays a role in the transport of free very-long-chain fatty acids (VLCFAs) as well as their CoA-esters across the peroxisomal membrane by acting as an ATP-specific binding subunit releasing ADP after ATP hydrolysis. Thus, plays a role in regulation of VLCFAs and energy metabolism namely, in the degradation and biosynthesis of fatty acids by beta-oxidation, mitochondrial function and microsomal fatty acid elongation. Involved in several processes; namely, controls the active myelination phase by negatively regulating the microsomal fatty acid elongation activity and may also play a role in axon and myelin maintenance. Controls also the cellular response to oxidative stress by regulating mitochondrial function like, mitochondrial oxidative phosphorylation and depolarization. And finally controls the inflammatory response by positively regulating peroxisomal beta-oxidation of VLCFAs (By similarity).

Biological Process

Alpha-linolenic acid metabolic process
Fatty acid beta-oxidation
Fatty acid beta-oxidation using acyl-CoA oxidase
Fatty acid elongation
Fatty acid homeostasis
Linoleic acid metabolic process
Lipid transport
Long-chain fatty acid catabolic process
Long-chain fatty acid import into peroxisome
Myelin maintenance Source: UniProtKB
Negative regulation of cytokine production involved in inflammatory response
Negative regulation of reactive oxygen species biosynthetic process
Neuron projection maintenance
Peroxisomal membrane transport
Peroxisome organization
Positive regulation of fatty acid beta-oxidation
Positive regulation of unsaturated fatty acid biosynthetic process
Protein import into peroxisome membrane
Regulation of cellular response to oxidative stress
Regulation of fatty acid beta-oxidation
Regulation of mitochondrial depolarization
Regulation of oxidative phosphorylation
Sterol homeostasis
Very long-chain fatty acid catabolic process
Very long-chain fatty-acyl-CoA catabolic process

Cellular Location

Lysosome membrane; Mitochondrion membrane; Endoplasmic reticulum membrane; Peroxisome membrane

Involvement in disease

A peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO) phenotype.

PTM

Tyrosine-phosphorylated.