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