ABCD1


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ABCD1

A gene on chromosome Xp28, which encodes a member of the superfamily of ATP-binding cassette (ABC) transporters, which transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies—ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White. The ABCD1 protein product belongs to the ALD subfamily and is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in peroxisomes.

Molecular pathology
ABCD1 mutations are linked to adernoleukodystrophy.
References in periodicals archive ?
bluebird bio's CCALD product program has the potential to halt the progression of CCALD by providing a functional ABCD1 gene to the patient's own stem cells.
NeuroVia's lead candidate NV1205, is a small molecule therapeutic that showed the ability to reduce levels of VLCFAs in brain, adrenal tissue and blood of mice lacking a functioning ABCD1 gene.
In this study, mice lacking the ABCD1 VLCFA transporter were treated once-daily with VK0214 or vehicle for six weeks, and assessed for changes in VLCFA levels at various time points.