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GBA3
Cytosolic beta-glucosidase, also known as cytosolic beta-glucosidase-like protein 1, is a beta-glucosidase () enzyme that in humans is encoded by the ''GBA3'' gene. Function Cytosolic beta-glucosidase is a predominantly liver enzyme that efficiently hydrolyzes beta-D-glucoside and beta-D-galactoside, but not any known physiologic beta-glycoside, suggesting that it may be involved in detoxification of plant glycosides. GBA3 also has significant neutral glycosylceramidase activity (), suggesting that it may be involved in a non-lysosomal catabolic pathway of glucosylceramide Glucocerebroside (also called glucosylceramide) is any of the cerebrosides in which the monosaccharide head group is glucose. Research conducted on glucocerebrosides has shown that glucocerebrosides help support cellular functions in humans, ... metabolism. See also * Closely related enzymes ** GBA: acid β-glucosidase, ** GBA2: acid β-glucosidase (bile acid), also References Further readin ...
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GBA2
''GBA2'' is the gene that encodes the enzyme non-lysosomal glucosylceramidase in humans. It has glucosylceramidase () activity. Function This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. See also * Closely related enzymes ** GBA: acid β-glucosidase (lysosomal), ** GBA3 Cytosolic beta-glucosidase, also known as cytosolic beta-glucosidase-like protein 1, is a beta-glucosidase () enzyme that in humans is encoded by the ''GBA3'' gene. Function Cytosolic beta-glucosidase is a predominantly liver enzyme that effi ...: acid β-glucosidase (cytosolic), References Further reading * ...
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Glucocerebrosidase
β-Glucocerebrosidase (also called acid β-glucosidase, D-glucosyl-N-acylsphingosine glucohydrolase, or GCase) is an enzyme with glucosylceramidase activity () that cleaves by hydrolysis the β-glycosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism that is abundant in cell membranes (particularly skin cells). It is localized in the lysosome, where it remains associated with the lysosomal membrane. β-Glucocerebrosidase is 497 amino acids in length and has a molecular mass of 59,700 Da. Structure β-Glucocerebrosidase is a member of the glycoside hydrolase family 30 and consists of three distinct domains (I-III). File:Structure of human beta-glucocerebrosidase @.png, Three-dimensional PyMol rendering of glucocerebrosidase with three domains highlighted. File:Glucocerebrosidase active site.png, Three-dimensional PyMol rendering of glucocerebrosidase with catalytic residues highlighted. Domain I (residues 1–27 and 383–414) forms a th ...
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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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Glucocerebroside
Glucocerebroside (also called glucosylceramide) is any of the cerebrosides in which the monosaccharide head group is glucose. Research conducted on glucocerebrosides has shown that glucocerebrosides help support cellular functions in humans, such as signaling pathways as well as being possibly linked to diseases. Certain symptoms of diseases such as Gaucher's and Parkinson's disease have been linked to abnormal changes in glucocerebroside metabolism, such as changes in glucocerebroside levels and regulation. Researchers have also started to study the role of glucocerebrosides in cancer. In Gaucher's disease, the enzyme glucocerebrosidase is nonfunctional and cannot break down glucocerebroside into glucose and ceramide in the lysosome. Affected macrophages, called Gaucher cells, have a distinct appearance similar to "wrinkled tissue paper" under light microscopy, because the substrates build-up within the lysosome. In 2019, research conducted by Lee et al., shows that gluco ...
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Lysosome
A lysosome () is a membrane-bound organelle that is found in all mammalian cells, with the exception of red blood cells (erythrocytes). There are normally hundreds of lysosomes in the cytosol, where they function as the cell’s degradation center. Their primary responsibility is catabolic degradation of proteins, polysaccharides and lipids into their respective building-block molecules: amino acids, monosaccharides, and free fatty acids. The breakdown is done by various enzymes, for example proteases, glycosidases and lipases. With an acidic lumen limited by a single-bilayer lipid membrane, the lysosome holds an environment isolated from the rest of the cell. The lower pH creates optimal conditions for the over 60 different Hydrolase, hydrolases inside. Lysosomes receive extracellular particles through endocytosis, and intracellular components through autophagy. They can also fuse with the plasma membrane and secrete their contents, a process called lysosomal exocytosis. After ...
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Glucosylceramide
Glucocerebroside (also called glucosylceramide) is any of the cerebrosides in which the monosaccharide head group is glucose. Research conducted on glucocerebrosides has shown that glucocerebrosides help support cellular functions in humans, such as signaling pathways as well as being possibly linked to diseases. Certain symptoms of diseases such as Gaucher's and Parkinson's disease have been linked to abnormal changes in glucocerebroside metabolism, such as changes in glucocerebroside levels and regulation. Researchers have also started to study the role of glucocerebrosides in cancer. In Gaucher's disease, the enzyme glucocerebrosidase is nonfunctional and cannot break down glucocerebroside into glucose and ceramide in the lysosome. Affected macrophages, called Gaucher cells, have a distinct appearance similar to "wrinkled tissue paper" under light microscopy, because the substrates build-up within the lysosome. In 2019, research conducted by Lee et al., shows that gluco ...
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