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.[provided by RefSeq, Dec 2009]

Function: 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

By similarity.

Catalytic activity: 5-formimidoyltetrahydrofolate + L-glutamate = tetrahydrofolate + N-formimidoyl-L-glutamate.5-formyltetrahydrofolate + L-glutamate = tetrahydrofolate + N-formyl-L-glutamate.5-formimidoyltetrahydrofolate = 5,10-methenyltetrahydrofolate + NH3.

Cofactor: Pyridoxal phosphate.

Pathway: 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.

Subunit structure: Homooctamer, including four polyglutamate binding sites. The subunits are arranged as a tetramer of dimers, and form a planar ring-shaped structure

By similarity.

Subcellular location: Cytoplasm › cytoskeleton › microtubule organizing center › centrosome › centriole. Golgi apparatus

By similarity. Note: More abundantly located around the mother centriole. Ref.5

Involvement in disease: Glutamate formiminotransferase deficiency (FIGLU-URIA) [MIM:229100]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities: In the C-terminal section; belongs to the cyclodeaminase/cyclohydrolase family.In the N-terminal section; belongs to the formiminotransferase family.