The 70-kDa peroxisomal membrane protein (PMP70) and the adrenoleukodystrophy protein (ALDP aka ABCD1) are half ATP binding cassette (ABC) transporters in the peroxisome membrane. They are involved in metabolic transport of long and very long chain fatty acids into peroxisomes. Mutations in the ALD gene result in the X-linked neurodegenerative disorder adrenoleukodystrophy (ALD; MIM:300100). ABCD1 deficiency impairs the peroxisomal beta-oxidation of very long-chain fatty acids (VLCFA) and facilitates their further chain elongation by ELOVL1 resulting in accumulation of VLCFA in plasma and tissues. While all patients with ALD have mutations in the ABCD1 gene, there is no general genotype-phenotype correlation. Mutations causing ALD include R617C, S606L, M1V, G277R, R554H and W77_L82del (Krasemann et al. 1996, Fanen et al. 1994, Engelen et al. 2011, Coll et al. 2005, Park et al. 2014).
van Geel, BM,
de Visser, M,
van der Kooi, AJ,
long-chain fatty acid transporter activity of ABCD1 mutants [peroxisomal membrane]
Loss of function of ABCD1 mutants [peroxisomal membrane]