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Literature summary for 1.3.3.6 extracted from

  • Ferdinandusse, S.; Barker, S.; Lachlan, K.; Duran, M.; Waterham, H.; Wanders, R.; Hammans, S.
    Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy (2010), J. Neurol. Neurosurg. Psychiatry, 81, 310-312.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
SCOX expression analysis in peroxisomal acyl-coenzyme A oxidase deficiency patients, overview Homo sapiens

Protein Variants

Protein Variants Comment Organism
R210H naturally occuring apparent homozygous missense mutation c.629G/A of SCOX in a peroxisomal acyl-coenzyme A oxidase deficiency patient Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
peroxisome
-
Homo sapiens 5777
-

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
72000
-
x * 72000, SDS-PAGE Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
brain
-
Homo sapiens
-
brain stem
-
Homo sapiens
-
cerebellum
-
Homo sapiens
-
fibroblast
-
Homo sapiens
-
skin
-
Homo sapiens
-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
additional information
-
no activity in a second peroxisomal acyl-coenzyme A oxidase deficiency patient Homo sapiens
0.000016
-
activity in one peroxisomal acyl-coenzyme A oxidase deficiency patient, pH not specified in the publication, temperature not specified in the publication Homo sapiens

Subunits

Subunits Comment Organism
? x * 72000, SDS-PAGE Homo sapiens

Synonyms

Synonyms Comment Organism
peroxisomal acyl-coenzyme A oxidase
-
Homo sapiens
SCOX
-
Homo sapiens
straight-chain acyl-coenzyme A oxidase
-
Homo sapiens

General Information

General Information Comment Organism
metabolism SCOX is the first enzyme of the peroxisomal beta-oxidation system and is involved in the oxidation of various fatty acids including very-long-chain fatty acids, long-chain dicarboxylic acids and polyunsaturated fatty acids, but not branched-chain fatty acids such as pristanic acid and the C27-bile acid intermediates Homo sapiens
additional information adult peroxisomal acyl-coenzyme A oxidase deficiency, formerly also called pseudoneonatal adrenoleucodystrophy, is a disorder of peroxisomal fatty acid oxidation with a severe presentation with cerebellar and brainstem atrophy, phenotype, overview. Accumulation of very-long-chain fatty acids is the only diagnostic marker for SCOX deficiency Homo sapiens