ABCD1 AntibodyPeptide-affinity purified goat antibody

BACKGROUND

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.

REFERENCES

Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes. Matsukawa T, et al. Neurogenetics, 2010 Jul 27. PMID 20661612. [A novel missense mutation resulting in X-linked adrenoleukodystrophy in female heterozygotes of a Chinese family] Xie HH, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2010 Apr. PMID 20376793. Spinocerebellar variant of adrenoleukodystrophy with a novel ABCD1 gene mutation. Li JY, et al. J Neurol Sci, 2010 Mar 15. PMID 20042197. Downregulation of ABCD1 in human renal cell carcinoma. Hour TC, et al. Int J Biol Markers, 2009 Jul-Sep. PMID 19787628. Three novel variants in X-linked adrenoleukodystrophy. Shukla P, et al. J Child Neurol, 2009 Jul. PMID 19406751.