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The protein encoded by FTCD is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Zusätzlich bieten wir Ihnen FTCD Antikörper (118) und FTCD Kits (8) und viele weitere Produktgruppen zu diesem Protein an.
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The formiminotransferase-cyclodeaminase allelic spectrum comprised of 12 distinct variants including 5 missense alterations, an in-frame deletion, two frameshift variants and four nonsense variants with the remaining alterations predicted to affect mRNA processing/stability.
FTCD is a positive regulator of the hypoxia-HIF signaling pathway and has an important role in cell proliferation, metabolism and migration in HepG2 cells
The FTCD promoter is activated by serum depletion according to promoter reporter assays in HEK 293 cells.
Scyl1 interacts with 58K/formiminotransferase cyclodeaminase (FTCD) and golgin p115, and is required for the maintenance of Golgi morphology
Disease-causing mutations have been identified in the FTCD gene in three patients with the putative autosomal recessive disorder glutamate formiminotransferase deficiency.
Autoreactive B cell response against formiminotransferase-cyclodeaminase correlated with disease activity, possibly linking B-cell autoreactivity and AIH pathogenesis
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.
, formiminotransferase cyclodeaminase
, glutamate formiminotransferase
, 58 kDa microtubule-binding protein