58K Golgi protein est un gène codé par le symbole FTCD. Les alias courants comprennent: Formimidoyltransferase-cyclodeaminase; Formiminotransferase-cyclodeaminase; FTCD; LCHC1; Glutamate formiminotransferase; Glutamate formyltransferase; Formiminotetrahydrofolate cyclodeaminase. 58K Golgi protein a une masse de 58.93kDa, une longueur d'acide aminé de 541, et est impliqué dans Glutamate formiminotransferase deficiency.
Nous proposons 14 des anticorps contre 58K Golgi protein, élevé dans Lapin, Souris et Chèvre, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF et Cytométrie en Flux avec des échantillons dérivés de Humain, Souris, Rat, Porcin, Singe et Canin.
Informations sur les Gènes et les Protéines
Résumé UniProt
Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool.
Résumé 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.
Implication dans la maladie
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.
Similitudes de séquence
In the C-terminal section; belongs to the cyclodeaminase/cyclohydrolase family.
Localisation cellulaire
Cytoplasm > Cytoskeleton > Microtubule organizing center > Centrosome > Centriole. Golgi apparatus.
More abundantly located around the mother centriole.
