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Literature summary 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.
    View publication on PubMed

Application

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

Cloned(Commentary)

EC Number Cloned (Comment) Organism
7.6.2.4 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

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

Localization

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

Molecular Weight [Da]

EC Number Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
7.6.2.4 75000
-
 monomer, SDS-PAGE and immunoblotting Homo sapiens

Natural Substrates/ Products (Substrates)

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

Organism

EC Number Organism UniProt Comment Textmining
7.6.2.4 Homo sapiens
-
-
-

Source Tissue

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

Substrates and Products (Substrate)

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

Subunits

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

Synonyms

EC Number Synonyms Comment Organism
7.6.2.4 ABCD1
-
 Homo sapiens
7.6.2.4 adrenoleukodystrophy protein
-
 Homo sapiens
7.6.2.4 ALDP
-
 Homo sapiens