Reactome | ABCD1-3 dimers transfer LCFAs from cytosol to peroxisomal matrix

ABCD1-3 dimers transfer LCFAs from cytosol to peroxisomal matrix

Stable Identifier

R-HSA-382575

Type

Reaction [transition]

Species

Homo sapiens

Compartment

peroxisomal membrane, cytosol, peroxisomal matrix

ReviewStatus

5/5

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ABCD1-3 dimers transfer LCFAs from cytosol to peroxisomal matrix

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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
10777694	Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p Holzinger, A, Landgraf, P, Kammerer, S, Roscher, AA, Muntau, AC, Adamski, J, Gerber, JK, Mayerhofer, PU, Gloeckner, CJ	Biochem Biophys Res Commun	2000
15209530	ATP-binding cassette (ABC) transporters in human metabolism and diseases Poledne, R, Stefková, J, Hubácek, JA	Physiol Res	2004
8411712	PMP70, the 70-kDa peroxisomal membrane protein: a member of the ATP-binding cassette transporters Osumi, T, Kamijo, K, Hashimoto, T	Nippon Rinsho	1993
8507690	Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis Lopez, J, Douar, AM, Mandel, JL, Sarde, CO, Aubourg, P, Mosser, J	Biochimie	1993
11248239	Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters Holzinger, A, Gärtner, J, Mayerhofer, P, Roerig, P	FEBS Lett	2001