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Literature summary for 2.1.2.10 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
Search for more literature for 2.1.2.10

Application

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

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

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

Natural Substrates/ Products (Substrates)

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

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
chorionic villus
-
 Homo sapiens
-
liver
-
 Homo sapiens
-

Substrates and Products (Substrate)

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

Cofactor Comment Organism Structure
tetrahydrofolate requires tetrahydrofolate Homo sapiens