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ST20-MTHFS (ST20-MTHFS readthrough) encodes a chimeric enzyme produced via read-through transcription of the adjacent ST20 and MTHFS genes on chromosome 15. The resulting protein encompasses 5-formyltetrahydrofolate cyclo-ligase activity, catalyzing the irreversible conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a critical intermediate in folate-dependent one-carbon metabolism. This pathway supports the biosynthesis of nucleotides and amino acids, and its dysfunction is implicated in neurodevelopmental disorders, including microcephaly and epilepsy.
Inhibition or modulation of enzymatic conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate. Downstream effects on one-carbon metabolism, nucleotide biosynthesis, and DNA methylation.
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