Target intelligence / Profile preview

ST20-MTHFS readthrough (ST20-MTHFS)

Target
ST20-MTHFS
Molecular classification
Enzyme, Synthetase/ligase enzyme family
01

Overview

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.

Other names
MTHFSST20-MTHFS protein5,10-methenyltetrahydrofolate synthetase5-formyltetrahydrofolate cyclo-ligaseMethenyl-THF synthetaseST20-MTHFS readthrough
02

Mechanism of action

Inhibition or modulation of enzymatic conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate. Downstream effects on one-carbon metabolism, nucleotide biosynthesis, and DNA methylation.

03

Biological functions

One-carbon metabolismFolate metabolismBiosynthesis of purines, thymidine, and amino acidsRegulation of cellular methylation potential
04

Disease associations

Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelinationBaraitser-Winter syndrome 1Alterations in this pathway are also broadly relevant to metabolic and neurodevelopmental diseases.
05

Safety considerations

Risk of impacting DNA synthesis, cellular proliferation, and methylation.Potential neurodevelopmental or hematological effects if inhibited or mutated.

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