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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]
The un-methylated form, folic acid (vitamin B 9), is a synthetic form of folate, and must undergo enzymatic reduction by dihydrofolate reductase to become biologically active. [1] It is synthesized in the absorptive cells of the small intestine from polyglutamylated dietary folate. It is a methylated derivative of tetrahydrofolate.
Moron gene: A prophage gene that has no role in the phage's lysogenic cycle. NEMO: NF-kappa-B essential modulator: Methuselah-like proteins: Named for Methuselah, extends the lifespan of an organism: MTHFR1 Short for METHYLENETETRAHYDROFOLATE REDUCTASE 1 methylenetetrahydrofolate reductase MTHFR1 mRNA [7] NUDEL-Gen: German for "Noodle"
Mutations in the MTR gene have been identified as the underlying cause of methylcobalamin deficiency complementation group G, or methylcobalamin deficiency cblG-type. [5] Deficiency or deregulation of the enzyme due to deficient methionine synthase reductase can directly result in elevated levels of homocysteine ( hyperhomocysteinemia ), which ...
C677T or rs1801133 is a genetic variation—a single nucleotide polymorphism (SNP)—in the MTHFR gene. Among Americans the frequency of T-homozygosity ranges from 1% or less among people of sub-Saharan African descent to 20% or more among Italians and Hispanics. [1] It has been related to schizophrenia [2] Alzheimer's disease [3] depression [4 ...
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.
This gene encodes a nuclear-encoded mitochondrial bifunctional enzyme with methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities. The enzyme functions as a homodimer and is unique in its absolute requirement for magnesium and inorganic phosphate.