FTCD; LCHC1; formiminotransferase cyclodeaminase; formimidoyltransferase cyclodeaminase; LC1 autoantigen; 58KGolgi protein; 58KGolgi protein(Internal)/FTCD

For Research Use Only. Not for use in diagnostic procedures.

100ug of dried peptide

Shipped at ambient temperature, store at -20 degree C

Manufactured in an ISO 9001:2008 Certified Laboratory.

Small volumes of FTCD blocking peptide vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

16,503 Da

formimidoyltransferase cyclodeaminase

formimidoyltransferase-cyclodeaminase

Formimidoyltransferase-cyclodeaminase

FTCD??[Similar Products]

FTCD_HUMAN

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

Chromosomal Location of Human Ortholog: 21q22.3

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

Molecular Function: formimidoyltetrahydrofolate cyclodeaminase activity; formimidoyltransferase activity; microtubule binding; protein binding

Biological Process: folic acid and derivative metabolic process; histidine catabolic process

Disease: Formiminotransferase Deficiency

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