58K Golgi protein è un gene codificato dal simbolo FTCD. Gli alias comuni includono: Formimidoyltransferase-cyclodeaminase; Formiminotransferase-cyclodeaminase; FTCD; LCHC1; Glutamate formiminotransferase; Glutamate formyltransferase; Formiminotetrahydrofolate cyclodeaminase. 58K Golgi protein ha una massa di 58.93kDa, una lunghezza di amminoacidi di 541, ed è implicato in Glutamate formiminotransferase deficiency.
Offriamo 14 anticorpi contro 58K Golgi protein, allevati nel Coniglio, Topo e Capra, che sono adatti per WB, IHC, ELISA, ICC/IF e Citometria a Flusso con campioni derivati da Umano, Topo, Ratto, Maiale, Scimmia e Cane.
Informazioni su geni e proteine
Riepilogo UniProt
Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool.
Sommario di Entrez
The protein encoded by this gene is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with glutamate formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this gene.
Coinvolgimento nella malattia
Glutamate formiminotransferase deficiency: Autosomal recessive disorder. Features of a severe phenotype, include elevated levels of formiminoglutamate (FIGLU) in the urine in response to histidine administration, megaloblastic anemia, and mental retardation. Features of a mild phenotype include high urinary excretion of FIGLU in the absence of histidine administration, mild developmental delay, and no hematological abnormalities.
Somiglianze di sequenza
In the C-terminal section; belongs to the cyclodeaminase/cyclohydrolase family.
Posizione cellulare
Cytoplasm > Cytoskeleton > Microtubule organizing center > Centrosome > Centriole. Golgi apparatus.
More abundantly located around the mother centriole.
