Formimidoyltransferase cyclodeaminase
Appearance
formimidoyltransferase cyclodeaminase | |||||||
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![]() Formiminotransferase cyclodeaminase homooctamer, Rattus norvegicus | |||||||
Identifiers | |||||||
Symbol | FTCD | ||||||
Alt. names | formiminotransferase cyclodeaminase | ||||||
NCBI gene | 10841 | ||||||
HGNC | 3974 | ||||||
OMIM | 606806 | ||||||
RefSeq | NM_006657 | ||||||
UniProt | O95954 | ||||||
Other data | |||||||
Locus | Chr. 21 q22.3 | ||||||
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Formimidoyltransferase cyclodeaminase or formiminotransferase cyclodeaminase (gene symbol FTCD in humans) is a bifunctional enzyme that catalyzes the following reactions:[1]
- conversion of formiminoglutamate and tetrahydrofolate into formiminotetrahydrofolate and glutamate (glutamate formimidoyltransferase activity, EC 2.1.2.5)
- subsequent deamination of formiminotetrahydrofolate to 5,10-methenyltetrahydrofolate and ammonia (formimidoyltetrahydrofolate cyclodeaminase activity, EC 4.3.1.4)
Its name comes from the two activities it catalyzes.
Role in pathology
[edit]Mutations of the FTCD gene cause glutamate formiminotransferase deficiency.[1]
See also
[edit]References
[edit]- ^ a b "Glutamate formiminotransferase deficiency". NIH. GARD. August 10, 2016. Retrieved December 21, 2020.