ABCD1-3 dimers transfer LCFAs from cytosol to peroxisomal matrix

Stable Identifier
R-HSA-382575
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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. In addition to ABCD1, other genes and environmental factors determine clinical features of ALD (Kemp et al. 2012, Berger et al. 2014).

Literature References
PubMed ID Title Journal Year
15209530 ATP-binding cassette (ABC) transporters in human metabolism and diseases

Stefková, J, Poledne, R, Hubácek, JA

Physiol Res 2004
10777694 Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p

Gloeckner, CJ, Mayerhofer, PU, Landgraf, P, Muntau, AC, Holzinger, A, Gerber, JK, Kammerer, S, Adamski, J, Roscher, AA

Biochem Biophys Res Commun 2000
8411712 PMP70, the 70-kDa peroxisomal membrane protein: a member of the ATP-binding cassette transporters

Kamijo, K, Osumi, T, Hashimoto, T

Nippon Rinsho 1993
8507690 Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis

Aubourg, P, Mosser, J, Douar, AM, Sarde, CO, Lopez, J, Mandel, JL

Biochimie 1993
11248239 Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters

Roerig, P, Mayerhofer, P, Holzinger, A, Gärtner, J

FEBS Lett 2001
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
long-chain fatty acid transporter activity of ABCD1-3 dimers [peroxisomal membrane]
Physical Entity
Activity
Orthologous Events
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Created