FTCD Antibody – Rabbit 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.[provided by RefSeq, Dec 2009]

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

Chromosomal Location of Human Ortholog: 21q22.3

Cellular Component: centriole; cytoplasm; cytosol; endoplasmic reticulum; ER-Golgi intermediate compartment; Golgi apparatus; Golgi membrane; smooth endoplasmic reticulum membrane

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

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

Disease: Formiminotransferase Deficiency