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Details on Person The 70-kDa peroxisomal membrane protein (PMP70) and the adre...
| Class:Id | Summation:387014 |
|---|---|
| _displayName | The 70-kDa peroxisomal membrane protein (PMP70) and the adre... |
| _timestamp | 2015-03-25 15:53:35 |
| created | [InstanceEdit:387028] Gopinathrao, G, 2008-11-29 15:54:33 |
| literatureReference | [LiteratureReference:382598] Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters [LiteratureReference:387026] ATP binding/hydrolysis by and phosphorylation of peroxisomal ATP-binding cassette proteins PMP70 (ABCD3) and adrenoleukodystrophy protein (ABCD1) |
| modified | [InstanceEdit:387034] Gopinathrao, G, 2008-11-29 15:55:40 [InstanceEdit:1472887] Jassal, Bijay, 2011-08-04 [InstanceEdit:5684978] Jassal, Bijay, 2015-03-24 [InstanceEdit:5685106] Jassal, Bijay, 2015-03-25 |
| text | 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). |
| (summation) | [Reaction:382575] ABCD1-3 dimers transfer LCFAs from cytosol to peroxisomal matrix [Homo sapiens] [Pathway:5684045] Defective ABCD1 causes ALD [Homo sapiens] |
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No pathways have been reviewed or authored by The 70-kDa peroxisomal membrane protein (PMP70) and the adre... (387014)
