FTCD

Chr 21q22.3

formimidoyltransferase cyclodeaminase

MANE:: ENST00000397746.8

OMIM: 606806 ↗NCBI: 10841 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

FTCD · O95954

v62025-08-01

Predicted Aligned Error matrix for FTCD — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

95.3/ 100

Very high

541 residues

Confidence breakdown

Very high(≥ 90)91%
Confident(70–90)8%
Low(50–70)2%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Rare anaemia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

formiminoglutamic aciduria
0.79
hereditary disease
0.50
neurodegenerative disease
0.38
mastocytosis
0.35
multiple sclerosis
0.32
lysosomal storage disease
0.32
Parkinson disease
0.32
Alzheimer disease
0.32
Microscopic hematuria
0.27
autoimmune disorder of central nervous system
0.22

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Formimidoyltransferase-cyclodeaminase

Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool