GBA2
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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 effic ...: acid β-glucosidase (cytosolic), References Further reading * * ...
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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 ...
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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 ...
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Glucosylceramidase
In enzymology, a glucosylceramidase () is an enzyme that catalyzes the chemical reaction :D-glucosyl-N-acylsphingosine + H2O \rightleftharpoons D-glucose + N-acylsphingosine Thus, the two substrates of this enzyme are D-glucosyl-N-acylsphingosine and H2O, whereas its two products are D-glucose and N-acylsphingosine. This enzyme belongs to the family of hydrolases, specifically those glycosidases that hydrolyse O- and S-glycosyl compounds. The systematic name of this enzyme class is D-glucosyl-N-acylsphingosine glucohydrolase. Other names in common use include: * psychosine hydrolase, * glucosphingosine glucosylhydrolase, * GlcCer-beta-glucosidase, * beta-D-glucocerebrosidase, * glucosylcerebrosidase, * beta-glucosylceramidase, * ceramide glucosidase, * glucocerebrosidase, * glucosylsphingosine beta-glucosidase, * and glucosylsphingosine beta-D-glucosidase. This enzyme participates in sphingolipid metabolism and degradation of glycan structures. Human proteins containing th ...
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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 is needed to cleave, by hydrolysis, the beta-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 weight of 59,700 Daltons. 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 38 ...
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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 metabolism. See also * Closely related enzymes ** GBA: acid β-glucosidase, ** 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 ...: acid β-glucosidase (bile acid), also References Further reading ...
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