免疫原
Synthesized peptide derived from human FTCD AA range: 157-207
特异性
This antibody detects endogenous levels of FTCD at Human/Mouse/Rat
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
背景
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],
功能
catalytic activity:5-formimidoyltetrahydrofolate + L-glutamate = tetrahydrofolate + N-formimidoyl-L-glutamate.,catalytic activity:5-formimidoyltetrahydrofolate = 5,10-methenyltetrahydrofolate + NH(3).,catalytic activity:5-formyltetrahydrofolate + L-glutamate = tetrahydrofolate + N-formyl-L-glutamate.,cofactor:Pyridoxal phosphate.,disease:Defects in FTCD are the cause of glutamate formiminotransferase deficiency [MIM:229100]; 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.,function:Folate-d
