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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.
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.
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 +
Methylenetetrahydrofolate dehydrogenase 1 deficiency (MTHFD1 deficiency) is a disease resulting from mutations of the MTHFD1 gene. Patients with this disease may have hemolytic uremic syndrome , macrocytosis , epilepsy, hearing loss, retinopathy, mild mental retardation, lymphocytopenia (involving all subsets) and low T-cell receptor excision ...
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