機能Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool. Binds and promotes bundling of vimentin filaments originating from the Golgi.
パスウェイAmino-acid degradation; L-histidine degradation into L-glutamate; L-glutamate from N-formimidoyl-L-glutamate (transferase route): step 1/1. One-carbon metabolism; tetrahydrofolate interconversion.
関連疾患Defects in FTCD are the cause of glutamate formiminotransferase deficiency (FIGLU-URIA) [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.
配列類似性In the C-terminal section; belongs to the cyclodeaminase/cyclohydrolase family. In the N-terminal section; belongs to the formiminotransferase family.
細胞内局在Cytoplasm > cytoskeleton > centrosome > centriole. Golgi apparatus. More abundantly located around the mother centriole.