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

rs2839127 in FTCD gene and Age related macular degeneration PMID 31120506 2019 Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration.

rs200283734 in FTCD gene and Glutamate formiminotransferase deficiency PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 12815595 2003 The molecular basis of glutamate formiminotransferase deficiency.

PMID 29178637 2017 Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.

PMID 25689098 2015 Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.