Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary extracted from

  • Toone, J.R.; Applegarth, D.A.; Coulter-Mackie, M.B.; James, E.R.
    Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): A strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH) (2001), Mol. Genet. Metab., 72, 322-325.
    View publication on PubMed

Application

EC Number Application Comment Organism
2.1.2.10 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

EC Number Protein Variants Comment Organism
2.1.2.10 D276H nonketotic hyperglycinemia, rare mutation Homo sapiens
2.1.2.10 G269D nonketotic hyperglycinemia, rare mutation Homo sapiens
2.1.2.10 G47R nonketotic hyperglycinemia, rare mutation Homo sapiens
2.1.2.10 H42R present in many nonketotic hyperglycinemia affected members of an extended Israeli-Arab kindred Homo sapiens
2.1.2.10 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
2.1.2.10 N145I nonketotic hyperglycinemia, substitution of conserved N, patient has servere neonatal presentation and died in the newborn period Homo sapiens
2.1.2.10 Q192X nonketotic hyperglycinemia, premature stop codon Homo sapiens
2.1.2.10 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

EC Number Localization Comment Organism GeneOntology No. Textmining
2.1.2.10 mitochondrion
-
 Homo sapiens 5739
-

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.1.2.10 S-aminomethyldihydrolipoylprotein + (6S)-tetrahydrofolate Homo sapiens part of the glycine cleavage system dihydrolipoylprotein + (6R)-5,10-methylenetetrahydrofolate + NH3
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
2.1.2.10 Homo sapiens
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.1.2.10 chorionic villus
-
 Homo sapiens
-
2.1.2.10 liver
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.1.2.10 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 ?
-
 ?
2.1.2.10 S-aminomethyldihydrolipoylprotein + (6S)-tetrahydrofolate requires tetrahydrofolate Homo sapiens dihydrolipoylprotein + (6R)-5,10-methylenetetrahydrofolate + NH3
-
 ?
2.1.2.10 S-aminomethyldihydrolipoylprotein + (6S)-tetrahydrofolate part of the glycine cleavage system Homo sapiens dihydrolipoylprotein + (6R)-5,10-methylenetetrahydrofolate + NH3
-
 ?

Cofactor

EC Number Cofactor Comment Organism Structure
2.1.2.10 tetrahydrofolate requires tetrahydrofolate Homo sapiens