Literature summary for 7.6.2.4 extracted from

Takahashi, N.; Morita, M.; Maeda, T.; Harayama, Y.; Shimozawa, N.; Suzuki, Y.; Furuya, H.; Sato, R.; Kashiwayama, Y.; Imanaka, T.
Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations (2007), J. Neurochem., 101, 1632-1643.

Search for more literature for 7.6.2.4

Application

Application	Comment	Organism
medicine	mutations in the gene encoding ALDP result in a devasting neurodegenerative disorder, X-linked adrenoleukodystrophy, X-ALD	Homo sapiens

Cloned(Commentary)

Cloned (Comment)	Organism
into the pMAM2-BSD, pEGFPN-1 and pcDNA4HisMax TOP vector for transfection of CHO cells, and as templates for the construction of mutant cDNAs	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
G116R	naturally occuring missense mutation	Homo sapiens
H667D	naturally occuring missense mutation	Homo sapiens
Q544R	naturally occuring missense mutation	Homo sapiens
R104C	naturally occuring missense mutation	Homo sapiens
R617H	naturally occuring missense mutation	Homo sapiens
S342P	naturally occuring missense mutation	Homo sapiens
S606L	naturally occuring missense mutation	Homo sapiens
S606P	naturally occuring missense mutation	Homo sapiens
Y174C	naturally occuring missense mutation	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
peroxisomal membrane	-	Homo sapiens	5778	-

Molecular Weight [Da]

Molecular Weight [Da]	Molecular Weight Maximum [Da]	Comment	Organism
75000	-	monomer, SDS-PAGE and immunoblotting	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
ATP + H2O + fatty acyl CoA/cis	Homo sapiens	-	ADP + phosphate + fatty acyl CoA/trans	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
fibroblast	X-ALD fibroblast lacking ALDP	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
ATP + H2O + fatty acyl CoA/cis	-	Homo sapiens	ADP + phosphate + fatty acyl CoA/trans	-	?

Subunits

Subunits	Comment	Organism
dimer	homodimer and heterodimer with other peroxisomal ABC proteins	Homo sapiens

Synonyms

Synonyms	Comment	Organism
ABCD1	-	Homo sapiens
adrenoleukodystrophy protein	-	Homo sapiens
ALDP	-	Homo sapiens

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Release 2023.1 (January 2023)