FTCD Antibody – Goat Polyclonal

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.

FTCD: Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool. Defects in FTCD are the cause of glutamate formiminotransferase deficiency (FIGLU-URIA); also known as formiminoglutamicaciduria (FIGLU-uria). It is an 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. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Methyltransferase; EC 4.3.1.4; Amino Acid Metabolism - histidine; Lyase; EC 2.1.2.5; Cofactor and Vitamin Metabolism - one carbon pool by folate

Chromosomal Location of Human Ortholog: 21q22.3

Cellular Component: centriole; Golgi apparatus; cytoplasm; cytosol

Molecular Function: formimidoyltetrahydrofolate cyclodeaminase activity; glutamate formimidoyltransferase activity; folic acid binding

Biological Process: folic acid and derivative metabolic process; cytoskeleton organization and biogenesis; histidine catabolic process to glutamate and formamide; histidine catabolic process; histidine catabolic process to glutamate and formate

Disease: Formiminotransferase Deficiency