Cloned (Comment) | Organism |
---|---|
GCDH genotyping in black South African population, overview | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
A293T | naturally occruing mutation in GCDH | Homo sapiens |
Q59P | naturally occruing mutation in GCDH | Homo sapiens |
R402W | naturally occruing mutation in GCDH | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrion | - |
Homo sapiens | 5739 | - |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
glutaryl-CoA + FAD | Homo sapiens | - |
crotonoyl-CoA + CO2 + FADH2 | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
black South African population | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
fibroblast | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
glutaryl-CoA + FAD | - |
Homo sapiens | crotonoyl-CoA + CO2 + FADH2 | - |
? |
Synonyms | Comment | Organism |
---|---|---|
GCDH | - |
Homo sapiens |
Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
---|---|---|---|
37 | - |
assay at | Homo sapiens |
pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
---|---|---|---|
7.5 | - |
assay at | Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
FAD | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
additional information | glutaric aciduria type 1, GA 1, cause by glutaryl-CoA dehydrogenase deficiency, is an inherited disorder of lysine and tryptophan catabolism that typically manifests in infants with acute cerebral injury associated with intercurrent illness, phenotypoes in black South African population, overview | Homo sapiens |
physiological function | glutaryl-CoA dehydrogenase activity is required for the catabolism of the essential ketogenic amino acids lysine and tryptophan | Homo sapiens |