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+).
Biological Context
Disease Association: 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. [The disease is caused by variants affecting the gene represented in this entry]
Pathway: Pyrimidine metabolism; dTTP biosynthesis
Product Specifications
Recombinant Human Thymidylate kinase (DTYMK) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 1-212aa, with N-terminal GST-tagged tag, molecular weight 50.7kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications. Explore more Kinase proteins →
