GENE REFERENCE / HGNC:3974

FTCD

formimidoyltransferase cyclodeaminase

protein-coding gene21q22.3Gene information

What does this gene do?

The FTCD gene provides instructions for making an enzyme called formimidoyltransferase-cyclodeaminase. This enzyme is found mainly in the liver, although small amounts are found in the kidneys and the testes. Formimidoyltransferase-cyclodeaminase is called a bifunctional enzyme because it performs two functions.

The first function of formimidoyltransferase-cyclodeaminase is to act as a transferase, which is an enzyme that moves (transfers) a group of atoms from one molecule to another. By doing this, the enzyme converts formiminoglutamate (FIGLU) to 5-formiminotetrahydrofolate. The amino acid glutamate, which is a building block of many proteins, is also produced during this process.

Formimidoyltransferase-cyclodeaminase also acts as a deaminase, which is an enzyme that removes a group of nitrogen and hydrogen atoms from other molecules. By doing this, the enzyme converts 5-formiminotetrahydrofolate to a different tetrahydrofolate molecule. Tetrahydrofolate molecules are involved in producing purines and pyrimidines, which are the building blocks of DNA and its chemical cousin, RNA. The tetrahydrofolates carry small molecules called one-carbon units that are needed to produce these larger molecules.

These two functions make up the final two steps in the breakdown of the amino acid histidine.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-06-06. Source review: 2025-06.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 562
Submissions for variants in or overlapping this gene: 800
Submissions explicitly reporting this gene: 662
Alleles reported pathogenic / likely pathogenic: 41
VariationIDs with uncertain significance: 219
VariationIDs with conflicting classifications: 10

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about FTCD?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 41 alleles in FTCD reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in FTCD.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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