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.

Mentioned in

References in periodicals archive

X-ALD is a monogenic disease, with an incidence ranging from 1:20000 to 1:100000, which is caused by mutations in the ABCD1 (ATP binding cassette subfamily D member 1) gene, located on Xq28.

Challenges for worldwide harmonization of newborn screening programs

The 25-week proof-of-concept study, conducted at the Kennedy Krieger Institute under a sponsored research agreement with Viking, was designed to evaluate changes in VLCFA levels in the ABCD1 knockout mouse model intended to mirror the loss of ABCD1 transporter activity that is considered the hallmark of X-ALD.

Viking Therapeutics Study of VK0214 in Mouse Model of X-ALD Demonstrates Significant Reductions in Plasma and Tissue VLCFAs

Although the differentiation-dependent and sterol-regulated induction of ABCA1 and ABCG1 is well established (7), parallel transcript profiling, using our Human ABC Transporter TaqMan Low-Density Array, revealed several additional differentiation-dependent ABC transporters and novel LXR/RXR-regulated ABC transporters, including ABCB1 (MDR1), ABCB9, ABCB11 (BSEP), ABCC2 (MRP2), ABCC5 (MRP5), ABCD1 (ALD), ABCD4, and ABCG2.

Human ATP-binding cassette transporter TaqMan low-density array: analysis of macrophage differentiation and foam cell formation

X-ALD is characterised by elevated levels of very long chain fatty acids (VLCFAs) in various tissues due to any of a number of loss-of-function mutations in the ABCD1 gene.

NeuroVia Closes USD 14m Series A Financing Round; Will Fund X-ALD Disease Treatment

It involves transplantation with a patient's own stem cells, which are modified to contain functional copies of the ABCD1 gene.

Bluebird bio Touts Topline Interim Clinical Data from Starbeam Study of Lenti-D Drug Product in Cerebral Adrenoleukodystrophy