MTHFS
Function
Contributes to tetrahydrofolate metabolism. Helps regulate carbon flow through the folate-dependent one-carbon metabolic network that supplies carbon for the biosynthesis of purines, thymidine and amino acids. Catalyzes the irreversible conversion of 5-formyltetrahydrofolate (5-FTHF) to yield 5,10-methenyltetrahydrofolate.
Involvement in disease
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
NEDMEHM
An autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy, and characterized by microcephaly, short stature, severe global developmental delay, progressive spasticity, and epilepsy. Brain imaging shows delayed myelination, hypomyelination, enlarged ventricles, and cerebellar atrophy.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the 5-formyltetrahydrofolate cyclo-ligase family.
Cellular localization
- Cytoplasm
Alternative names
5-formyltetrahydrofolate cyclo-ligase, MTHFS, Methenyl-THF synthetase