FTCD Gene (Formimidoyltransferase Cyclodeaminase)
FTCD: A bifunctional enzyme in histidine metabolism and its role in glutamate formiminotransferase deficiency
Gene Information Card
| Symbol | FTCD |
|---|---|
| Full Name | Formimidoyltransferase Cyclodeaminase |
| Gene Type | protein-coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 10841 ncbi.nlm.nih.gov/gene/10841 |
| Ensembl ID | ENSG00000160282 |
| UniProt ID | O95954 |
| OMIM ID | 606806 |
| HGNC ID | 3974 |
| Aliases | FTCD, LCHC1, MGC138211 |
Description
The FTCD gene encodes formimidoyltransferase cyclodeaminase, a bifunctional enzyme that catalyzes two sequential steps in the histidine degradation pathway: the conversion of formiminoglutamate (FIGLU) to formiminotetrahydrofolate and then to methenyltetrahydrofolate. This enzyme is localized to the cytoplasm and is highly expressed in liver and kidney. Mutations in FTCD cause glutamate formiminotransferase deficiency, an autosomal recessive disorder of histidine metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glutamate formiminotransferase deficiency | Loss-of-function mutations in FTCD impair histidine catabolism, leading to accumulation of FIGLU and clinical features including intellectual disability, megaloblastic anemia, and metabolic acidosis. | OMIM #229100; ClinVar; PMID: 15662599 |
| FTCD-related disorder | Biallelic pathogenic variants in FTCD result in enzyme deficiency with variable neurological and hematological manifestations. | ClinVar; NCBI GeneReviews |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 27.8 | High |
| Kidney | 12.3 | Medium |
| Small intestine | 5.6 | Low |
| Brain | 2.1 | Low |
| Heart | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 3.4 | Embryonic kidney cells |
| K562 | 0.8 | Chronic myelogenous leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.682C>T (p.Arg228*) | Nonsense | <0.01% | Premature stop, loss of function |
| c.1043G>A (p.Arg348His) | Missense | <0.01% | Reduced enzyme activity |
Mutation functional classification
Loss of Function (LOF)
Most reported FTCD mutations are loss-of-function, leading to enzyme deficiency and glutamate formiminotransferase deficiency.
Gain of Function (GOF)
No gain-of-function mutations have been reported in FTCD.
Dominant Negative (DN)
No dominant-negative effects have been described for FTCD mutations.
View complete mutation data：
Gene Ontology (GO)
| • hydrolase activity (GO:0016798) | • transferase activity (GO:0016740) |
| • histidine metabolic process (GO:0006547) | • cytoplasm (GO:0005737) |
Pathways
• Histidine metabolism (KEGG: hsa00340)
• One carbon pool by folate (KEGG: hsa00670)
Protein Summary
Formimidoyltransferase cyclodeaminase is a 541-amino acid bifunctional enzyme that catalyzes the conversion of formiminoglutamate to formiminotetrahydrofolate and then to methenyltetrahydrofolate in the histidine degradation pathway. The protein is a homodimer and contains two catalytic domains: an N-terminal formimidoyltransferase domain and a C-terminal cyclodeaminase domain. It is primarily expressed in liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FTCD Knockout HEK293 Cell Line | EDJ-KQ7187 | Human | 10841 | Details Get a Quote |
| FTCDNL1 Knockout HEK293 Cell Line | EDJ-KQ13528 | Human | 348751 | Details Get a Quote |
| FTCDNL1 Knockout A-549 Cell Line | EDJ-KQ43139 | Human | 348751 | Details Get a Quote |
| FTCDNL1 Knockout HeLa Cell Line | EDJ-KQ41895 | Human | 348751 | Details Get a Quote |
| FTCD Knockout HeLa Cell Line | EDJ-KQ55497 | Human | 10841 | Details Get a Quote |
| FTCD Knockout A-549 Cell Line | EDJ-KQ63986 | Human | 10841 | Details Get a Quote |
| FTCD Knockout HCT 116 Cell Line | EDJ-KQ72437 | Human | 10841 | Details Get a Quote |
