Gene Symbol | FTCD |
Entrez Gene ID | 10841 |
Full Name | formimidoyltransferase cyclodeaminase |
Synonyms | LCHC1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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.[provided by RefSeq, Dec 2009]. |
Disorder MIM: | |
Disorder Html: | Glutamate formiminotransferase deficiency, 229100 (3) |