Defective ABCD1 does not transfer LCFAs from cytosol to peroxisomal matrix

Stable Identifier
Reaction [transition]
Homo sapiens
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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).
Literature References
PubMed ID Title Journal Year
15811009 X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females

Camps, C, Pàmpols, T, Girós, M, Coll, MJ, Palau, N, Ruiz, M

Clin. Genet. 2005
24719134 Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy

Kim, HJ, Lee, PH, Kang, HC, Choi, BO, Park, HJ, Choi, YC, Shin, HY, Suh, BC, Kim, SM

Yonsei Med. J. 2014
8040304 Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene

Guidoux, S, Goossens, M, Fanen, P, Sarde, CO, Mandel, JL, Aubourg, P

J. Clin. Invest. 1994
22176151 X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy

Koelman, JT, van Geel, BM, Sistermans, EA, de Visser, M, van der Kooi, AJ, Kemp, S, Wanders, RJA, Engelen, M, Waterham, HR

J. Peripher. Nerv. Syst. 2011
8566952 Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy

Korenke, GC, Hunneman, DH, Krasemann, EW, Meier, V, Hanefeld, F

Hum. Genet. 1996
Catalyst Activity

long-chain fatty acid transporter activity of ABCD1 mutants [peroxisomal membrane]

Normal reaction
Functional status

Loss of function of ABCD1 mutants [peroxisomal membrane]

Name Identifier Synonyms
adrenoleukodystrophy DOID:10588 ALD, Siemerling-Creutzfeldt Disease, diffuse sclerosis, X-linked adrenoleukodystrophy, Adrenoleukodystrophy, Schilder disease, Bronze Schilder disease, Encephalitis periaxialis, Schilder's, Encephalitis periaxialis concentrica, SUDANOPHILIC CEREBRAL SCLEROSIS
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