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Defective ABCD1 causes ALD
Stable Identifier
R-HSA-5684045
Type
Pathway
Species
Homo sapiens
Synonyms
Defective ABCD1 causes adrenoleukodystrophy (ALD)
ReviewStatus
5/5
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Defective ABCD1 causes ALD (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. 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
24316281
Pathophysiology of X-linked adrenoleukodystrophy
Berger, J
,
Eichler, FS
,
Forss-Petter, S
Biochimie
2014
22483867
X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects
Aubourg, P
,
Berger, J
,
Kemp, S
Biochim. Biophys. Acta
2012
Participants
Events
Defective ABCD1 does not transfer LCFAs from cytosol to peroxisomal matrix
(Homo sapiens)
Participates
as an event of
ABC transporter disorders (Homo sapiens)
Disease
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
Authored
Jassal, B (2015-03-18)
Reviewed
Shukla, S (2015-09-15)
Created
Jassal, B (2015-03-18)
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