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.

Mentioned in ?

folate-sensitive neural tube defects

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

Critical Role of HAX-1 in Promoting Avian Influenza Virus Replication in Lung Epithelial Cells

Molloy et al., "Analysis of the MTHFD1 promoter and risk of neural tube defects," Human Genetics, vol.

Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans

These are MTHFR, MTHFD1, SHMT, MTR, MTRR, PEMT (choline production), BHMT (homocysteine to methionine conversion), CBS and SUOX.

Per oxynitrite, is this the "gorilla in the room" we have been missing: how you can finally control peroxynitrite by supporting genetic variants

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].

Genetic polymorphisms involved in folate metabolism and maternal risk for down syndrome: a meta-analysis

Moghrabi, "Role of polymorphism in MTHFR and MTHFD1 genes in the outcome of childhood acute lymphoblastic leukemia," Pharmacogenomics Journal, vol.

Polymorphisms of MTHFR associated with higher relapse/death ratio and delayed weekly MTX administration in pediatric lymphoid malignancies

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.

Towards personalized medicine--the role of methotrexate

Plasma homocysteine, MTHFR C677T, CBS 844ins68bp, and MTHFD1 G1958A polymorphisms in spontaneous cervical artery dissections.

A narrative review of pathophysiological mechanisms associated with cervical artery dissection

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).

Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions

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.

Genetic variation in the MTHFR gene influences thiopurine methyltransferase activity