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Literature summary 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

Protein Variants

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

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.1.2.5 5-formimidoyltetrahydrofolate + L-glutamate Homo sapiens
-
 tetrahydrofolate + N-formimidoyl-L-glutamate
-
 ?

Organism

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

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.1.2.5 blood
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.1.2.5 5-formimidoyltetrahydrofolate + L-glutamate
-
 Homo sapiens tetrahydrofolate + N-formimidoyl-L-glutamate
-
 ?

Synonyms

EC Number Synonyms Comment Organism
2.1.2.5 formiminotransferase-cyclodeaminase
-
 Homo sapiens
2.1.2.5 FTCD
-
 Homo sapiens

General Information

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