TKFC

Chr 11q12.2

triokinase and FMN cyclase

Aliases:: DKFZP586B1621, NET45
MANE:: ENST00000394900.8

OMIM: 615844 ↗NCBI: 26007 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TKFC · Q3LXA3

v62025-08-01

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

Mean pLDDT

95.3/ 100

Very high

575 residues

Confidence breakdown

Very high(≥ 90)90%
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)

Moderate Evidence (Amber)

Bilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

triokinase and FMN cyclase deficiency syndrome
0.63
Sengers syndrome
0.40
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
0.38
COVID-19
0.37
inborn errors of metabolism
0.33
cardiomyopathy
0.19
retinitis pigmentosa
0.06
Cone rod dystrophy
0.05
Leber congenital amaurosis
0.05
isolated aniridia
0.05

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

Protein function (UniProt)

Triokinase/FMN cyclase

Catalyzes both the phosphorylation of dihydroxyacetone and of glyceraldehyde, and the splitting of ribonucleoside diphosphate-X compounds among which FAD is the best substrate. Represses IFIH1-mediated cellular antiviral response (PubMed:17600090)