FTCD
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.
Involvement in disease
Glutamate formiminotransferase deficiency
FIGLU-URIA
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 intellectual disability. Features of a mild phenotype include high urinary excretion of FIGLU in the absence of histidine administration, mild developmental delay, and no hematological abnormalities.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Amino-acid degradation; L-histidine degradation into L-glutamate; L-glutamate from N-formimidoyl-L-glutamate (transferase route): step 1/1.
Sequence Similarities
In the C-terminal section; belongs to the cyclodeaminase/cyclohydrolase family.
In the N-terminal section; belongs to the formiminotransferase family.
Cellular localization
- Cytoplasm
- Cytosol
- Golgi apparatus
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Centriole
- More abundantly located around the mother centriole.
Alternative names
Formimidoyltransferase-cyclodeaminase, Formiminotransferase-cyclodeaminase, LCHC1, FTCD