DTYMK Chromosome 2
Deoxythymidylate kinase
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What This Gene Does
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]
Associated Conditions (3)
Neurodegeneration
childhood-onset
with progressive microcephaly
Key Variants
RS1005167119
Pathogenic
Neurodegeneration, childhood-onset, with progressive microcephaly
Health Risk
RS1267106442
Pathogenic
Neurodegeneration, childhood-onset, with progressive microcephaly
Health Risk
RS373875797
Pathogenic
Neurodegeneration, childhood-onset, with progressive microcephaly
Health Risk
RS887888951
Pathogenic
Neurodegeneration, childhood-onset, with progressive microcephaly
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1005167119 | Health Risk | Pathogenic | Neurodegeneration, childhood-onset, with progressive microcephaly |
| RS1267106442 | Health Risk | Pathogenic | Neurodegeneration, childhood-onset, with progressive microcephaly |
| RS373875797 | Health Risk | Pathogenic | Neurodegeneration, childhood-onset, with progressive microcephaly |
| RS887888951 | Health Risk | Pathogenic | Neurodegeneration, childhood-onset, with progressive microcephaly |