DTYMK
Developmental stage
The levels of dTMP kinase mRNA and its enzymatic activity fluctuate during the cell cycle, peaking at the S phase.
Function
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+).
Involvement in disease
Neurodegeneration, childhood-onset, with progressive microcephaly
CONPM
An autosomal recessive disorder characterized by global developmental delay apparent from infancy. Most severely affected individuals have severe and progressive microcephaly, early-onset seizures, lack of visual tracking, and almost no developmental milestones, resulting in early death. Less severely affected individuals have a small head circumference and severely impaired intellectual development with poor speech and motor delay. Additional features may include poor overall growth, axial hypotonia, limb hypertonia with spasticity, undescended testes, and cerebral atrophy with neuronal loss.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Pyrimidine metabolism; dTTP biosynthesis.
Sequence Similarities
Belongs to the thymidylate kinase family.
Alternative names
CDC8, TMPK, TYMK, DTYMK, Thymidylate kinase, dTMP kinase