MTHFS

The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5, 10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased activity of the encoded protein can result in an increased folate turnover rate and folate depletion. Three transcript variants encoding two different isoforms have been found for this gene.

Full Name

5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)

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.

Biological Process

Folic acid catabolic process Source: BHF-UCL
Folic acid-containing compound biosynthetic process Source: GO_Central
Folic acid metabolic process Source: Reactome
Formate metabolic process Source: UniProtKB
Glutamate metabolic process Source: BHF-UCL
Tetrahydrofolate interconversion Source: BHF-UCL
Tetrahydrofolate metabolic process Source: UniProtKB

Cellular Location

Cytoplasm

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.