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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]
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.
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 ...
Levomefolic acid (INN, also known as L-5-MTHF, L-methylfolate and L-5-methyltetrahydrofolate and (6S)-5-methyltetrahydrofolate, and (6S)-5-MTHF) is the primary biologically active form of folate used at the cellular level for DNA reproduction, the cysteine cycle and the regulation of homocysteine.
In enzymology, a methylenetetrahydrofolate-tRNA-(uracil-5-)-methyltransferase (EC 2.1.1.74) is an enzyme that catalyzes the chemical reaction 5,10-methylenetetrahydrofolate + tRNA containing uridine at position 54 + FADH 2 ⇌ {\displaystyle \rightleftharpoons } tetrahydrofolate + tRNA containing ribothymidine at position 54 + FAD
Monofunctional C1-tetrahydrofolate synthase, mitochondrial also known as formyltetrahydrofolate synthetase, is an enzyme that in humans is encoded by the MTHFD1L gene (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like).
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.