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Literature summary for 2.1.2.5 extracted from

  • Majumdar, R.; Yori, A.; Rush, P.W.; Raymond, K.; Gavrilov, D.; Tortorelli, S.; Matern, D.; Rinaldo, P.; Feldman, G.L.; Oglesbee, D.
    Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria (2017), Mol. Genet. Genomic Med., 5, 795-799 .
    View publication on PubMedView publication on EuropePMC
Search for more literature for 2.1.2.5

Protein Variants

Protein Variants Comment Organism
C107R the mutation causes formiminoglutamic aciduria Homo sapiens
D89G the mutation causes formiminoglutamic aciduria Homo sapiens
E456G the mutation causes formiminoglutamic aciduria Homo sapiens
G144R the mutation causes formiminoglutamic aciduria Homo sapiens
G172W the mutation causes formiminoglutamic aciduria Homo sapiens
K151* the mutation causes formiminoglutamic aciduria Homo sapiens
L536* the mutation causes formiminoglutamic aciduria Homo sapiens
M75L the mutation causes formiminoglutamic aciduria Homo sapiens
Q113* the mutation causes formiminoglutamic aciduria Homo sapiens
R255* the mutation causes formiminoglutamic aciduria Homo sapiens
V458del the mutation causes formiminoglutamic aciduria Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
5-formimidoyltetrahydrofolate + L-glutamate Homo sapiens
-
 tetrahydrofolate + N-formimidoyl-L-glutamate
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
blood
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
5-formimidoyltetrahydrofolate + L-glutamate
-
 Homo sapiens tetrahydrofolate + N-formimidoyl-L-glutamate
-
 ?

Synonyms

Synonyms Comment Organism
formiminotransferase-cyclodeaminase
-
 Homo sapiens
FTCD
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction enzyme deficiency results in formiminoglutamic aciduria with elevated plasma and urine formiminoglutamic acid levels Homo sapiens