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Methylenetetrahydrofolate reductase (MTHFR) is the rate-limiting enzyme in the methyl cycle, and it is encoded by the MTHFR gene. [5] Methylenetetrahydrofolate reductase catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate , a cosubstrate for homocysteine remethylation to methionine .
Methylenetetrahydrofolate reductase deficiency is the most common genetic cause of elevated serum levels of homocysteine (hyperhomocysteinemia). It is caused by genetic defects in MTHFR, which is an important enzyme in the methyl cycle. [1] Common variants of MTHFR deficiency are asymptomatic and have only minor effects on disease risk. [2]
5,10-Methylenetetrahydrofolate (N5,N10-Methylenetetrahydrofolate; 5,10-CH 2-THF) is cofactor in several biochemical reactions. It exists in nature as the diastereoisomer [6R]-5,10-methylene-THF. As an intermediate in one-carbon metabolism, 5,10-CH 2 -THF converts to 5-methyltetrahydrofolate , 5-formyltetrahydrofolate , and methenyltetrahydrofolate.
Methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 (MTHFD1) is a gene located in humans on chromosome 14 [4] that encodes a protein, C-1-tetrahydrofolate synthase, cytoplasmic also known as C1-THF synthase, with three distinct enzymatic activities.
In enzymology, a methylenetetrahydrofolate reductase (ferredoxin) (EC 1.5.7.1) is an enzyme that catalyzes the chemical reaction 5-methyltetrahydrofolate + 2 oxidized ferredoxin ⇌ {\displaystyle \rightleftharpoons } 5,10-methylenetetrahydrofolate + 2 reduced ferredoxin + 2 H +
Within the mitochondria, it participates the conversion of folate to formate as part of the mitochondrial pathway for 1-carbon metabolism. [ 7 ] [ 8 ] In the final step of this pathway, the NADP+-dependent CH2-THF dehydrogenase/CH+-THF cyclohydrolase activity of bifunctional MTHFD2L complements the 10-CHO-THF synthetase activity of ...
4548 238505 Ensembl ENSG00000116984 ENSMUSG00000021311 UniProt Q99707 A6H5Y3 RefSeq (mRNA) NM_000254 NM_001291939 NM_001291940 NM_001081128 RefSeq (protein) NP_000245 NP_001278868 NP_001278869 NP_001074597 Location (UCSC) Chr 1: 236.8 – 236.92 Mb Chr 13: 12.2 – 12.27 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Methionine synthase (MS, MeSe, MTR) is primarily responsible for ...
It is produced from 5,10-methylenetetrahydrofolate by either a NAD+ dependent methylenetetrahydrofolate dehydrogenase, or a NADP+ dependent dehydrogenase. [1] It can also be produced as an intermediate in histidine catabolism, by formiminotransferase cyclodeaminase , from 5-formiminotetrahydrofolate .