Cloned (Comment) | Organism |
---|---|
SCOX expression analysis in peroxisomal acyl-coenzyme A oxidase deficiency patients, overview | Homo sapiens |
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 | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
peroxisome | - |
Homo sapiens | 5777 | - |
Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
---|---|---|---|
72000 | - |
x * 72000, SDS-PAGE | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
brain | - |
Homo sapiens | - |
brain stem | - |
Homo sapiens | - |
cerebellum | - |
Homo sapiens | - |
fibroblast | - |
Homo sapiens | - |
skin | - |
Homo sapiens | - |
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 | Comment | Organism |
---|---|---|
? | x * 72000, SDS-PAGE | Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
peroxisomal acyl-coenzyme A oxidase | - |
Homo sapiens |
SCOX | - |
Homo sapiens |
straight-chain acyl-coenzyme A oxidase | - |
Homo sapiens |
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 |