Entrez gene ID | | 10841 |
Official gene symbol | | FTCD |
Full name | | formiminotransferase cyclodeaminase |
Aliases | | ,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. |
Location | | Chromosome: 21 Locus: 21q22.3 |
Gene position | | 47575481 - 47556176 Map Viewer |
Gene orientation | | minus |
Gene size | | 19306 bp |
Gene sequence |
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OMIM ID | | 606806 |