DTYMK
Chr 2deoxythymidylate kinase
Also known as: CDC8, CONPM, PP3731, TMPK, TYMK
Enables ATP binding activity and dTMP kinase activity. Involved in dTDP biosynthetic process and thymidine biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]
ResearchGenerating clinical summary…
Primary Disease Associations & Inheritance
UniProtNeurodegeneration, childhood-onset, with progressive microcephaly
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.54LOEUF
pLI 0.000
Z-score 0.45
OE 0.83 (0.47–1.54)
Highly tolerant — LoF variants common in population
Missense Constraint?
0.25Z-score
OE missense 0.94 (0.81–1.09)
122 obs / 130.0 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.83 (0.47–1.54)
0≤0.351.4
Missense OE?0.94 (0.81–1.09)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 7 / 8.4Missense obs/exp: 122 / 130.0Syn Z: -0.31
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DTYMK · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools