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MTHFD1
MTHFD1 is a gene located in humans on chromosome 14 that encodes for a protein with three distinct enzymatic activities. C-1-tetrahydrofolate synthase, cytoplasmic also known as C1-THF synthase is an enzyme that in humans is encoded by the ''MTHFD1'' (methylenetetrahydrofolate dehydrogenase 1) gene. Function This gene encodes a protein that possesses three distinct enzymatic activities, methylenetetrahydrofolate dehydrogenase (1.5.1.5), methenyltetrahydrofolate cyclohydrolase (3.5.4.9) and formate–tetrahydrofolate ligase (6.3.4.3). Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine Methionine (symbol Met or M) () is an essential amino acid in humans. As the precursor of other amino acids such as cysteine and taurine, versatile compounds such as SAM-e, and the important antioxidant glutathione, methionine plays a critical ro ..., thymidylate, and de ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Methylenetetrahydrofolate Dehydrogenase 1 Deficiency
Methylenetetrahydrofolate dehydrogenase 1 deficiency (MTHFD1 deficiency) is a disease resulting from mutations of the MTHFD1 MTHFD1 is a gene located in humans on chromosome 14 that encodes for a protein with three distinct enzymatic activities. C-1-tetrahydrofolate synthase, cytoplasmic also known as C1-THF synthase is an enzyme that in humans is encoded by the ''MTHFD ... 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 circles. History The disease was first described by Watkins et al. in 2011. Alternative names * Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH) External links Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH)- a record in OMIM References {{reflist Genetic diseases and disorders Enzyme defec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Formate–tetrahydrofolate Ligase
In enzymology, a formate—tetrahydrofolate ligase () is an enzyme that catalyzes the chemical reaction :ATP + formate + tetrahydrofolate \rightleftharpoons ADP + phosphate + 10-formyltetrahydrofolate The 3 substrates of this enzyme are ATP, formate, and tetrahydrofolate, whereas its 3 products are ADP, phosphate, and 10-formyltetrahydrofolate. This enzyme belongs to the family of ligases, specifically those forming generic carbon-nitrogen bonds. This enzyme participates in glyoxylate and dicarboxylate metabolism and one carbon pool by folate. In eukaryotes the FTHFS activity is expressed by a multifunctional enzyme, C-1-tetrahydrofolate synthase (C1-THF synthase), which also catalyses the dehydrogenase and cyclohydrolase activities. Two forms of C1-THF synthases are known, one is located in the mitochondrial matrix, while the second one is cytoplasmic. In both forms the FTHFS domain consists of about 600 amino acid residues and is located in the C-terminal section of C1 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Methylenetetrahydrofolate Dehydrogenase (NADP+)
In enzymology, a methylenetetrahydrofolate dehydrogenase (NADP+) () is an enzyme that catalyzes the chemical reaction :5,10-methylenetetrahydrofolate + NADP+ \rightleftharpoons 5,10-methenyltetrahydrofolate + NADPH + H+ Thus, the two substrates of this enzyme are 5,10-methylenetetrahydrofolate and NADP+, whereas its 3 products are 5,10-methenyltetrahydrofolate, NADPH, and H+. This enzyme belongs to the family of oxidoreductases, specifically those acting on the CH-NH group of donors with NAD+ or NADP+ as acceptor. This enzyme participates in glyoxylate and dicarboxylate metabolism and one carbon pool by folate. Structural studies As of late 2007, 8 structures have been solved for this class of enzymes, with PDB accession codes , , , , , , , and . Clinical significance Mutations of the MTHFD1 gene may disrupt the activity of the enzyme and cause methylenetetrahydrofolate dehydrogenase 1 deficiency, also known as combined immunodeficiency and megaloblastic anemia with ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. Almost all metabolic processes in the cell need enzyme catalysis in order to occur at rates fast enough to sustain life. Metabolic pathways depend upon enzymes to catalyze individual steps. The study of enzymes is called ''enzymology'' and the field of pseudoenzyme analysis recognizes that during evolution, some enzymes have lost the ability to carry out biological catalysis, which is often reflected in their amino acid sequences and unusual 'pseudocatalytic' properties. Enzymes are known to catalyze more than 5,000 biochemical reaction types. Other biocatalysts are catalytic RNA molecules, called ribozymes. Enzymes' specificity comes from their unique three-dimensional structures. Like all catalysts, enzymes increase the reaction ra ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as gen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Methenyltetrahydrofolate Cyclohydrolase
In enzymology, a methenyltetrahydrofolate cyclohydrolase () is an enzyme that catalyzes the chemical reaction :5,10-methenyltetrahydrofolate + H2O \rightleftharpoons 10-formyltetrahydrofolate Thus, the two substrates of this enzyme are 5,10-methenyltetrahydrofolate and H2O, whereas its product is 10-formyltetrahydrofolate. This enzyme belongs to the family of hydrolases, those acting on carbon-nitrogen bonds other than peptide bonds, specifically in cyclic amidines. This enzyme participates in glyoxylate and dicarboxylate metabolism and one carbon pool by folate. Synonyms The systematic name of this enzyme class is 5,10-methenyltetrahydrofolate 5-hydrolase (decyclizing). Other names in common use include: * Citrovorum factor cyclodehydrase * cyclohydrolase * formyl-methenyl-methylenetetrahydrofolate synthetase (combined). Structural studies As of late 2007, 6 structures A structure is an arrangement and organization of interrelated elements in a material object or syst ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tetrahydrofolic Acid
Tetrahydrofolic acid (THFA), or tetrahydrofolate, is a folic acid derivative. Metabolism Human synthesis Tetrahydrofolic acid is produced from dihydrofolic acid by dihydrofolate reductase. This reaction is inhibited by methotrexate. It is converted into 5,10-methylenetetrahydrofolate by serine hydroxymethyltransferase. Bacterial synthesis Many bacteria use dihydropteroate synthetase to produce dihydropteroate, a molecule without function in humans. This makes it a useful target for sulfonamide antibiotics, which compete with the PABA precursor. Functions Tetrahydrofolic acid is a cofactor in many reactions, especially in the synthesis (or anabolism) of amino acids and nucleic acids. In addition, it serves as a carrier molecule for single-carbon moieties, that is, groups containing one carbon atom e.g. methyl, methylene, methenyl, formyl, or formimino. When combined with one such single-carbon moiety as in 10-formyltetrahydrofolate, it acts as a donor of a group ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Methionine
Methionine (symbol Met or M) () is an essential amino acid in humans. As the precursor of other amino acids such as cysteine and taurine, versatile compounds such as SAM-e, and the important antioxidant glutathione, methionine plays a critical role in the metabolism and health of many species, including humans. It is encoded by the codon AUG. Methionine is also an important part of angiogenesis, the growth of new blood vessels. Supplementation may benefit those suffering from copper poisoning. Overconsumption of methionine, the methyl group donor in DNA methylation, is related to cancer growth in a number of studies. Methionine was first isolated in 1921 by John Howard Mueller. Biochemical details Methionine (abbreviated as Met or M; encoded by the codon AUG) is an α-amino acid that is used in the biosynthesis of proteins. It contains a carboxyl group (which is in the deprotonated −COO− form under biological pH conditions), an amino group (which is in the protonated fo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Thymidine Monophosphate
Thymidine monophosphate (TMP), also known as thymidylic acid (conjugate base thymidylate), deoxythymidine monophosphate (dTMP), or deoxythymidylic acid (conjugate base deoxythymidylate), is a nucleotide that is used as a monomer in DNA. It is an ester of phosphoric acid with the nucleoside thymidine. dTMP consists of a phosphate group, the pentose sugar deoxyribose, and the nucleobase thymine. Unlike the other deoxyribonucleotides, thymidine monophosphate often does not contain the "deoxy" prefix in its name; nevertheless, its symbol often includes a "d" ("dTMP"). ''Dorland’s Illustrated Medical Dictionary'' provides an explanation of the nomenclature variation at its entry for thymidine. As a substituent, it is called by the prefix thymidylyl-. See also * DNA * Nucleoside * Nucleotide * Oligonucleotide * RNA Ribonucleic acid (RNA) is a polymeric molecule essential in various biological roles in coding, decoding, regulation and expression of genes. RNA and deoxyribo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Purine
Purine is a heterocyclic compound, heterocyclic aromatic organic compound that consists of two rings (pyrimidine and imidazole) fused together. It is water-soluble. Purine also gives its name to the wider class of molecules, purines, which include substituted purines and their tautomers. They are the most widely occurring nitrogen-containing heterocycles in nature. Dietary sources Purines are found in high concentration in meat and meat products, especially internal organs such as liver and kidney. In general, plant-based diets are low in purines. High-purine plants and algae include some legumes (lentils and Black-eyed pea, black eye peas) and Spirulina (dietary supplement), spirulina. Examples of high-purine sources include: sweetbreads, Anchovies as food, anchovies, Sardines as food, sardines, liver, beef kidneys, Brain as food, brains, meat extracts (e.g., Oxo (food), Oxo, Bovril), herring, mackerel, scallops, game meats, yeast (beer, yeast extract, nutritional yeast) and g ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
