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NAGA (gene)
Alpha-N-acetylgalactosaminidase is an enzyme that in humans is encoded by the ''NAGA'' gene. NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease Kanzaki may refer to: Places *Kanzaki, Saga, a city in Saga Prefecture, Japan *Kanzaki, Hyōgo, a former town in Kanzaki District, Hyōgo Prefecture, Japan *Kanzaki District (other), multiple districts in Japan *Kanzaki Station (disambigua ...). References Further reading * * * * * * * * * * * * * * * * * * * External links * Human proteins {{gene-22-stub ... [...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] |
Glycoconjugates
Glycoconjugates are the classification family for carbohydrates – referred to as glycans – which are covalently linked with chemical species such as proteins, peptides, lipids, and other compounds. Glycoconjugates are formed in processes termed glycosylation. Glycoconjugates are very important compounds in biology and consist of many different categories such as glycoproteins, glycopeptides, peptidoglycans, glycolipids, glycosides, and lipopolysaccharides. They are involved in cell–cell interactions, including cell–cell recognition; in cell–matrix interactions; in detoxification processes. Generally, the carbohydrate part(s) play an integral role in the function of a glycoconjugate; prominent examples of this are neural cell adhesion molecule (NCAM) and blood proteins where fine details in the carbohydrate structure determine cell binding (or not) or lifetime in circulation. Although the important molecular species DNA, RNA, ATP, cAMP, cGMP, NADH, NADPH, and coenzy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Schindler Disease
Schindler disease, also known as Kanzaki disease and alpha-N-acetylgalactosaminidase deficiency is a rare disease found in humans. This lysosomal storage disorder is caused by a deficiency in the enzyme alpha-NAGA ( alpha-N-acetylgalactosaminidase), attributable to mutations in the NAGA gene on chromosome 22, which leads to excessive lysosomal accumulation of glycoproteins. A deficiency of the alpha-NAGA enzyme leads to an accumulation of glycosphingolipids throughout the body. This accumulation of sugars gives rise to the clinical features associated with this disorder. Schindler disease is an autosomal recessive disorder, meaning that one must inherit an abnormal allele from both parents in order to have the disease. Types There are three main types of the disease each with its own distinctive symptoms. ''Type I'' infantile form, infants will develop normally until about a year old. At this time, the affected infant will begin to lose previously acquired skills involving the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kanzaki Disease
Kanzaki may refer to: Places *Kanzaki, Saga, a city in Saga Prefecture, Japan *Kanzaki, Hyōgo, a former town in Kanzaki District, Hyōgo Prefecture, Japan *Kanzaki District (other), multiple districts in Japan *Kanzaki Station (other) Kanzaki Station may refer to either of the following railway stations in Japan: * Kanzaki Station (Saga) (神埼駅) * Kanzaki Station (Kagawa) (神前駅) * Amagasaki Station (JR West), formerly (until 1948) called Kanzaki Station (神崎 ..., multiple railway stations in Japan Other uses * Kanzaki (surname), a Japanese surname {{disambiguation, geo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
