FTCD

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]

Description

formimidoyltransferase cyclodeaminase

Protein family

Disease related genes, Enzymes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Potential drug targets, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

21:q22.3 (46136262 - 46155579)

Ensembl ID

ENSG00000160282  (ver. 98.38)

Orthologs

Mouse Ftcd: ENSMUSG00000001155

UniProt

O95954

neXtProt

NX_O95954

Human splice variants
Mouse splice variants