Protein Variants | Comment | Organism |
---|---|---|
R227P | naturally occurring mutation leading to reduced enzyme activity, mildly altered phenotype, physiological analysis, absence of glutarate and 3-hydroxyglutarate in serum and in urine, overview | 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 + acceptor | Homo sapiens | part of the degradative pathway of the amino acids tryptophan, lysine, and hydroxylysine, enzyme deficiency leads to glutaric aciduria type I leading to nonspecific developmental delay, hypotonia, and macrocephaly with cerebral atrophyof prenatal onset | crotonoyl-CoA + CO2 + reduced acceptor | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
patient suffering glutaric aciduria type I, an autosomal recessive inborn error | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
glutaryl-CoA + acceptor | - |
Homo sapiens | crotonoyl-CoA + CO2 + reduced acceptor | - |
? | |
glutaryl-CoA + acceptor | part of the degradative pathway of the amino acids tryptophan, lysine, and hydroxylysine, enzyme deficiency leads to glutaric aciduria type I leading to nonspecific developmental delay, hypotonia, and macrocephaly with cerebral atrophyof prenatal onset | Homo sapiens | crotonoyl-CoA + CO2 + reduced acceptor | - |
? |
Synonyms | Comment | Organism |
---|---|---|
GDH | - |
Homo sapiens |