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AARS2 (gene)
Alanyl—tRNA synthetase, mitochondrial, also known as alanine—tRNA ligase (AlaRS) or alanyl—tRNA synthetase 2 (AARS2), is an enzyme that in humans is encoded by the ''AARS2'' gene. Clinical relevance Gene changes in the AARS2 gene result in infantile mitochondrial cardiomyopathies. Progressive leukoencephalopathy with Ovarian Failure (LKENP). Function The ''AARS2'' gene provides instructions for producing alanyl-tRNA synthetase 2, which is localized to mitochondria. This enzyme plays a critical role in the fidelity of mitochondrial protein translation by charging tRNAs with the correct amino acid (alanine). Proper mitochondrial protein synthesis is essential for the assembly and function of the oxidative phosphorylation system, which drives ATP production. Dysregulation of this process can disrupt cellular energy homeostasis and lead to a cascade of pathophysiological effects. Pathogenic Variants and Associated Disorders Leukoencephalopathy AARS2-related leukodystrophy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cardiomyopathy
Cardiomyopathy is a group of primary diseases of the heart muscle. Early on there may be few or no symptoms. As the disease worsens, shortness of breath, feeling tired, and swelling of the legs may occur, due to the onset of heart failure. An irregular heart beat and fainting may occur. Those affected are at an increased risk of sudden cardiac death. As of 2013, cardiomyopathies are defined as "disorders characterized by morphologically and functionally abnormal myocardium in the absence of any other disease that is sufficient, by itself, to cause the observed phenotype." Types of cardiomyopathy include hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular dysplasia, and Takotsubo cardiomyopathy (broken heart syndrome). In hypertrophic cardiomyopathy the heart muscle enlarges and thickens. In dilated cardiomyopathy the ventricles enlarge and weaken. In restrictive cardiomyopathy the ventricle stiffens. In ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aminoacyl TRNA Synthetase
An aminoacyl-tRNA synthetase (aaRS or ARS), also called tRNA-ligase, is an enzyme that attaches the appropriate amino acid onto its corresponding tRNA. It does so by catalyzing the transesterification of a specific cognate amino acid or its precursor to one of all its compatible cognate tRNAs to form an aminoacyl-tRNA. In humans, the 20 different types of aa-tRNA are made by the 20 different aminoacyl-tRNA synthetases, one for each amino acid of the genetic code. This is sometimes called "charging" or "loading" the tRNA with an amino acid. Once the tRNA is charged, a ribosome can transfer the amino acid from the tRNA onto a growing peptide, according to the genetic code. Aminoacyl tRNA therefore plays an important role in RNA Translation (biology), translation, the expression of genes to create proteins. Mechanism The synthetase first binds Adenosine triphosphate, ATP and the corresponding amino acid (or its Amino acid synthesis, precursor) to form an aminoacyl-adenylate, relea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
EC 6
EC or ec may refer to: Arts and entertainment * EC Comics, an American publisher of comic books * ''Electric Circus'', a Canadian television program * Eric Clapton Stratocaster, signature model guitars by Fender Businesses and organisations Government * Environment and Climate Change Canada, a Canadian federal government department * European Commission, the executive body of the European Union * European Council, the European Union institution comprising the college of heads of state of government * European Communities, one of the three pillars of the EU * European Community, a significant component of the European Union from 1993 to 2009, renamed European Economic Community Transportation * EuroCity, a train service of the European inter-city rail network * EasyJet Europe (IATA code: EC) * Avialeasing (former IATA code: EC), a cargo airline * East Coast (train operating company), a train operating company in the UK * EC, the aircraft registration prefix for Spain Educatio ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genes On Human Chromosome 6
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 RNA or protein from a gene), DNA is first copied into RNA. RNA can be directly functional or be the intermediate 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 of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype of the individual. Most biological traits occur under the combined influence of polygenes (a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
