Application | Comment | Organism |
---|---|---|
medicine | enzyme deficiency is associated with mild mental retardation, seizures, hypotonia, cardiomyopathie, vomiting, hypoglycemia, metabolic acidosis and malonic aciduria | Homo sapiens |
Cloned (Comment) | Organism |
---|---|
expression in the human hepatoma cell line huh7, sequencing, located on chromosome 16q24 | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | genetic mutation causing malonic aciduria: a four nucleotide deletion at the 3-end of exon 2 of the gene, c.638-641delGTGA, that introduces a premature stop codon and deletes the 272 carboxy terminal amino acids of the protein | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrion | enzyme may be targeted to mitochondria in addition to, or possibly instead of, peroxisomes | Homo sapiens | 5739 | - |
peroxisome | enzyme may be targeted to peroxisomes in addition to, or possibly instead of, mitochondria | Homo sapiens | 5777 | - |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
Malonyl-CoA | Homo sapiens | - |
Acetyl-CoA + CO2 | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
male, normal and with malonic aciduria | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
Malonyl-CoA | - |
Homo sapiens | Acetyl-CoA + CO2 | - |
? |