Anti-ABCD1

ABCD1 (also known as ALDP) is a member of the ATP-binding cassette (ABC) transporter superfamily which functions as transporter for a wide variety of substrates. It localizes to the peroxisomal membrane. The exact function is not clear so far. Various mutations of ABCD1 cause X-linked adrenoleukodystrophy (X-ALD),an inherited neurodegenerative disease affecting the nervous system white matter and adrenal cortex. Protein 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 (PubMed:15682271, PubMed:11248239, PubMed:16946495). 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 (PubMed:23671276). 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. [The UniProt Consortium]