58K Golgi protein ist ein Gen, das durch das Symbol FTCD kodiert wird. Häufige Alternativnamen sind: Formimidoyltransferase-cyclodeaminase; Formiminotransferase-cyclodeaminase; FTCD; LCHC1; Glutamate formiminotransferase; Glutamate formyltransferase; Formiminotetrahydrofolate cyclodeaminase. 58K Golgi protein hat eine Masse von 58.93kDa, eine Aminosäurelänge von 541, und ist an Glutamate formiminotransferase deficiency beteiligt.
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Gen- und Proteininformationen
UniProt Zusammenfassung
Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool.
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
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.
Sequenzähnlichkeiten
In the C-terminal section; belongs to the cyclodeaminase/cyclohydrolase family.
Zellort
Cytoplasm > Cytoskeleton > Microtubule organizing center > Centrosome > Centriole. Golgi apparatus.
More abundantly located around the mother centriole.
