DTYMK

Chr 2q37.3

deoxythymidylate kinase

Aliases:: CDC8, TYMK, TMPK
MANE:: ENST00000305784.7

OMIM: 188345 ↗NCBI: 1841 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

DTYMK · P23919

v62025-08-01

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

Mean pLDDT

95.6/ 100

Very high

212 residues

Confidence breakdown

Very high(≥ 90)89%
Confident(70–90)10%
Low(50–70)1%
Very low(< 50)1%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegeneration, childhood-onset, with progressive microcephaly
0.67
neurodegenerative disease
0.55
microcephaly
0.47
Intellectual disability
0.46
Global brain atrophy
0.46
Seizure
0.46
Global developmental delay
0.46
uterine corpus leiomyoma
0.18
Hepatomegaly
0.16
Abnormality of the skeletal system
0.12

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

Protein function (UniProt)

Thymidylate kinase

Catalyzes the phosphorylation of thymidine monophosphate (dTMP) to thymidine diphosphate (dTDP), the immediate precursor for the DNA building block dTTP, with ATP as the preferred phosphoryl donor in the presence of Mg(2+)