MTHFS gene

methenyltetrahydrofolate synthetase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Jun 2011]

From UniProt:

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.

From NCBI Gene:

  • NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION

From UniProt:

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. [MIM:618367]

Cytogenetic Location: 15q25.1, which is the long (q) arm of chromosome 15 at position 25.1

Molecular Location: base pairs 79,843,547 to 79,897,285 on chromosome 15 (Homo sapiens Updated Annotation Release 109.20191205, GRCh38.p13) (NCBI)

Cytogenetic Location: 15q25.1, which is the long (q) arm of chromosome 15 at position 25.1
  • HsT19268
  • NEDMEHM