Application | Comment | Organism |
---|---|---|
medicine | glutaric acid, 3-hydroxyglutric acid, and glutarylcarnithine accumulate in patients with GCDH deficiency | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
F236L/S259P | this genotype exhibits 3% GCDH activity | Homo sapiens |
G171W/V410M | this genotype exhibits 8% GCDH activity | Homo sapiens |
M1V/R227P | this genotype exhibits 4% GCDH activity | Homo sapiens |
R161Q/C228R | this genotype exhibits 25% GCDH activity | Homo sapiens |
S225W | this genotype exhibits 6% GCDH activity | Homo sapiens |
Y155H/A421V | this genotype exhibits 5% GCDH activity | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrion | - |
Homo sapiens | 5739 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
fibroblast | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
glutaryl-CoA + acceptor | - |
Homo sapiens | crotonyl-CoA + CO2 + reduced acceptor | - |
? |
Synonyms | Comment | Organism |
---|---|---|
GCDH | - |
Homo sapiens |