Mitochondrial Amidoxime Reducing Component 1
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Mitochondrial Amidoxime Reducing Component 1
Mitochondrial amidoxime-reducing component 1 (also known as MOCO sulphurase C-terminal domain containing 1, MOSC1 or MARC1) is a mammalian molybdenum-containing enzyme. It is located in the outer mitochondrial membrane and consists of a N-terminal mitochondrial signal domain facing the inter-membrane space, a transmembrane domain, and a C-terminal catalytic domain facing the cytosol. In humans it is encoded by the ''MOSC1'' gene. MOCO stands for molybdenum cofactor. MOSC1 has been reported to reduce amidoximes to amidines. Genetic variation in MARC1 has been reported to be associated with lower blood cholesterol levels, blood liver enzyme levels, reduced liver fat and protection from cirrhosis suggesting that MARC1 deficiency may protect against liver disease. A genome-wide association study involving subjects from the UK Biobank UK Biobank is a long-term prospective biobank study in the United Kingdom (UK) that houses the de-identified biological samples and health-relate ...
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Enzyme
An enzyme () is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different molecules known as product (chemistry), products. Almost all metabolism, metabolic processes in the cell (biology), 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, 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 include Ribozyme, catalytic RNA molecules, also called ribozymes. They are sometimes descr ...
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Gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. 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 non-coding genes. During gene expression (the synthesis of Gene product, RNA or protein from a gene), DNA is first transcription (biology), copied into RNA. RNA can be non-coding RNA, directly functional or be the intermediate protein biosynthesis, template for the synthesis of a protein. The transmission of genes to an organism's offspring, is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population (biology), population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype ...
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Oxime
In organic chemistry, an oxime is an organic compound belonging to the imines, with the general Chemical formula, formula , where R is an organic Side chain, side-chain and R' may be hydrogen, forming an aldoxime, or another organic functional group, group, forming a ketoxime. O-substituted oximes form a closely related family of compounds. Amidoximes are oximes of amides () with general structure . Oximes are usually generated by the reaction of hydroxylamine with aldehydes () or ketones (). The term ''oxime'' dates back to the 19th century, a combination of the words ''oxygen'' and ''imine''. Structure and properties If the two side-chains on the central carbon are different from each other—either an aldoxime, or a ketoxime with two different "R" groups—the oxime can often have two different geometric stereoisomeric forms according to the E/Z configuration, ''E''/''Z'' configuration. An older terminology of Descriptor (chemistry)#syn, anti, ''syn'' and ''anti'' was used to ...
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Amidine
Amidines are organic compounds with the functional group RC(NR)NR2, where the R groups can be the same or different. They are the imine derivatives of amides (RC(O)NR2). The simplest amidine is formamidine, HC(=NH)NH2. Examples of amidines include: * 1,8-Diazabicycloundec-7-ene, DBU * diminazene * benzamidine * Pentamidine * Paranyline Preparation A common route to primary amidines is the Pinner reaction. Reaction of the nitrile with alcohol in the presence of acid gives an Carboximidate, iminoether. Treatment of the resulting compound with ammonia then completes the conversion to the amidine. Instead of using a Brønsted–Lowry acid–base theory, Bronsted acid, Lewis acids and bases, Lewis acids such as Aluminium chloride, aluminium trichloride promote the direct amination of nitriles, or, in certain exceptional cases, of amides. Dimethylformamide acetal reacts with primary amines to give amidines: :Me2NC(H)(OMe)2 + RNH2 → Me2NC=NHR + 2 MeOH Catalysis is likewise not require ...
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Genome-wide Association Study
In genomics, a genome-wide association study (GWA study, or GWAS), is an observational study of a genome-wide set of Single-nucleotide polymorphism, genetic variants in different individuals to see if any variant is associated with a trait. GWA studies typically focus on associations between single-nucleotide polymorphisms (SNPs) and traits like major human diseases, but can equally be applied to any other genetic variants and any other organisms. When applied to human data, GWA studies compare the DNA of participants having varying phenotypes for a particular trait or disease. These participants may be people with a disease (cases) and similar people without the disease (controls), or they may be people with different phenotypes for a particular trait, for example blood pressure. This approach is known as phenotype-first, in which the participants are classified first by their clinical manifestation(s), as opposed to Genotype-first approach, genotype-first. Each person gives a ...
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UK Biobank
UK Biobank is a long-term prospective biobank study in the United Kingdom (UK) that houses the de-identified biological samples and health-related data of half a million people. The volunteer participants aged 40-69 were recruited between 2006 and 2010 from across Great Britain and consented to both share their health data and to be followed for at least 30 years thereafter; with the aim to enable scientific discoveries into the prevention, diagnosis, and treatment of disease. Background Based in Stockport, Greater Manchester, UK Biobank is incorporated as a limited company and Charity Commission for England and Wales, registered charity in England and Wales, and Office of the Scottish Charity Regulator, registered as a charity in Scotland. UK Biobank holds more than 10,000 variables of data on many of their 500,000 participants to inform research including biological samples, physical measurements, body and brain imaging data, bone density data, activity tracking and lifesty ...
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MOCOS
Molybdenum cofactor sulfurase is an enzyme that in humans is encoded by the ''MOCOS'' gene. MOCOS sulfurates the molybdenum cofactor of xanthine dehydrogenase (XDH) and aldehyde oxidase Aldehyde oxidase (AO) is a metabolizing enzyme, located in the cytosolic compartment of tissues in many organisms. AO catalyzes the oxidation of aldehydes into carboxylic acid, and in addition, catalyzes the hydroxylation of some heterocycles. ... (AOX1), which is required for their enzymatic activities. References Further reading * * * * * EC 2.8.1 {{gene-18-stub ...
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