MTHFD1

MTHFD1

A gene on chromosome 14q24 that encodes an enzyme that has three distinct enzymatic activities:
• 5,10-methylenetetrahydrofolate dehydrogenase (E.C. 1.5.1.5);
• 5,10-methenyltetrahydrofolate cyclohydrolase (E.C. 3.5.4.9); and
• 10-formyltetrahydrofolate synthetase (E.C. 6.3.4.3).
These activities interconvert methyl (1-carbon) derivatives of tetrahydrofolate, which serve as substrates for methionine, thymidylate and de novo purine synthesis.

Molecular pathology
Defects in MTHFD1 may increase susceptibility to folate-sensitive neural tube defects and colorectal cancer.
References in periodicals archive ?
Gene ID Symbol Official full name 8409 UXT Ubiquitously expressed prefoldin-like chaperone 150684 COMMD1 Copper metabolism domain-containing 1 1278 COL1A2 Collagen type I alpha 2 2335 FN1 Fibronectin 1 4522 MTHFD1 Methylenetetrahydrofolate dehydrogenase 1 5193 PEX12 Peroxisomal biogenesis factor 12 57231 SNX14 Sorting nexin 14 10572 SIVA1 SIVA1 apoptosis-inducing factor 10742 RAI2 Retinoic acid-induced 2 22902 RUFY3 RUN and FYVE domain-containing 3 10456 HAX1 HCLS1-associated protein X-1 3492 IGH Immunoglobulin heavy locus
Molloy et al., "Analysis of the MTHFD1 promoter and risk of neural tube defects," Human Genetics, vol.
These are MTHFR, MTHFD1, SHMT, MTR, MTRR, PEMT (choline production), BHMT (homocysteine to methionine conversion), CBS and SUOX.
Methionine synthase (MTR), methionine synthase reductase (MTRR), transcobalamin 2 (TC2), cystathionine beta synthase (CBS), and methylenetetrahydrofolate dehydrogenase (MTHFD1) are very important enzymes involved in folate/homocysteine (Hcy) metabolism and play essential roles in synthesis and repair of DNA and methylation reactions [12].
Additionally, methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), a trifunctional nicotinamide adenine dinucleotide phosphate-dependent cytoplasmic enzyme, catalyzes the sequential interconversion of tetrahydrofolate (THF) into the corresponding 10-formyl-THF, 5,10-methenyl-THF, and 5,10-methylene-THF [17], which play an important role in de novo purine and pyrimidine biosynthesis and, thus, the synthesis of DNA [18].
Moghrabi, "Role of polymorphism in MTHFR and MTHFD1 genes in the outcome of childhood acute lymphoblastic leukemia," Pharmacogenomics Journal, vol.
Wessels et al11 established a model for predicting MTX efficacy in RA patients which consisted of sex, rheumatoid factor and smoking status, the DAS, and 4 polymorphisms in the AMPD1, ATIC, ITPA, and MTHFD1 genes.
Plasma homocysteine, MTHFR C677T, CBS 844ins68bp, and MTHFD1 G1958A polymorphisms in spontaneous cervical artery dissections.
NM_000254).The reactions within the folate metabolism cycle can be very complex, with methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; GenBank accession no.
All SNPs were in HWE except the MTHFD1 SNP rs2236225 in affected individuals only (data not shown).
MTHF dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase (MTHFD1) catalyzes the conversion of tetrahydrofolate to [N.sup.10]-formyltetrahydrofolate, [N.sup.5], [N.sup.10]-methenyltetrahydrofolate, and 5,10-MTHF.
Models were also fitted with MTHFDI included to determine any multilocus effects across MTHFR and MTHFD1.