Gene: FTCD-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: FTCD

Alternate names for this Gene: LCHC1

Gene Summary: 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.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.3

Description of this Gene: formimidoyltransferase cyclodeaminase

Type of Gene: protein-coding

rs28941768 in FTCD-AS1;FTCD gene and Glutamate formiminotransferase deficiency PMID 12815595 2003 The molecular basis of glutamate formiminotransferase deficiency.