Application | Comment | Organism |
---|---|---|
medicine | strategy for molecular investigation of patients with nonketotic hyperglycinemia: defective glycine cleavage enzyme system, composed of P-, H-, T- and L-protein, 15% of patients have a T-protein defect | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
D276H | nonketotic hyperglycinemia, rare mutation | Homo sapiens |
G269D | nonketotic hyperglycinemia, rare mutation | Homo sapiens |
G47R | nonketotic hyperglycinemia, rare mutation | Homo sapiens |
H42R | present in many nonketotic hyperglycinemia affected members of an extended Israeli-Arab kindred | Homo sapiens |
additional information | allele frequency of 3% for T-protein splice site mutation IVS7-1G-A in 50 patients with enzymatic confirmation of their diagnostics of nonketotic hyperglycinemia, mutation with a one-base deletion 183delC | Homo sapiens |
N145I | nonketotic hyperglycinemia, substitution of conserved N, patient has servere neonatal presentation and died in the newborn period | Homo sapiens |
Q192X | nonketotic hyperglycinemia, premature stop codon | Homo sapiens |
R320H | allele frequency of 7% for R320H of T-protein in 50 patients with enzymatic confirmation of their diagnostics of nonketotic hyperglycinemia | 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. |
---|---|---|---|---|---|---|
S-aminomethyldihydrolipoylprotein + (6S)-tetrahydrofolate | Homo sapiens | part of the glycine cleavage system | dihydrolipoylprotein + (6R)-5,10-methylenetetrahydrofolate + NH3 | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
chorionic villus | - |
Homo sapiens | - |
liver | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | enzyme is a component of the glycine cleavage system which is composed of P-, H-, L- and T-protein, multienzyme complex | Homo sapiens | ? | - |
? | |
S-aminomethyldihydrolipoylprotein + (6S)-tetrahydrofolate | requires tetrahydrofolate | Homo sapiens | dihydrolipoylprotein + (6R)-5,10-methylenetetrahydrofolate + NH3 | - |
? | |
S-aminomethyldihydrolipoylprotein + (6S)-tetrahydrofolate | part of the glycine cleavage system | Homo sapiens | dihydrolipoylprotein + (6R)-5,10-methylenetetrahydrofolate + NH3 | - |
? |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
tetrahydrofolate | requires tetrahydrofolate | Homo sapiens |