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GALC
Galactosylceramidase (or galactocerebrosidase) is an enzyme that in humans is encoded by the ''GALC'' gene. Galactosylceramidase is an enzyme which removes galactose from ceramide derivatives (galactosylceramides). Galactosylceramidase is a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease Krabbe disease (KD) (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare and often fatal lysosomal storage disease that results in progressive damage to the nervous system. KD involves dysfunctional metabolism of ..., also known as galactosylceramide lipidosis. References Further reading * * * * * * * * * * * * * * * * * * * * External links GeneReviews/NCBI/NIH/UW entry on Krabbe disease OMIM entries on Krabbe disease* PDBe-KBprovides an overview of all the structure information avai ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Krabbe Disease
Krabbe disease (KD) (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare and often fatal lysosomal storage disease that results in progressive damage to the nervous system. KD involves dysfunctional metabolism of sphingolipids and is inherited in an autosomal recessive pattern. The disease is named after the Danish neurologist Knud Krabbe (1885–1961). Signs and symptoms Symptoms in asymptomatic infantile-onset (<12 months after birth) and later-onset Krabbe disease present themselves differently. Of individuals with infantile-onset Krabbe disease, 85–90% display progressive neurologic deterioration in infancy and death before the age of two. Symptoms include , s, limb stiffness, < ... [...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] |
Galactose
Galactose (, '' galacto-'' + '' -ose'', "milk sugar"), sometimes abbreviated Gal, is a monosaccharide sugar that is about as sweet as glucose, and about 65% as sweet as sucrose. It is an aldohexose and a C-4 epimer of glucose. A galactose molecule linked with a glucose molecule forms a lactose molecule. Galactan is a polymeric form of galactose found in hemicellulose, and forming the core of the galactans, a class of natural polymeric carbohydrates. D-Galactose is also known as brain sugar since it is a component of glycoproteins (oligosaccharide-protein compounds) found in Nerve tissue, nerve tissue. Etymology The word ''galactose'' was coined by Charles Weissman in the mid-19th century and is derived from Greek ''galaktos'' (of milk) and the generic chemical suffix for sugars ''-ose''. The etymology is comparable to that of the word '' lactose'' in that both contain roots meaning "milk sugar". Lactose is a disaccharide of galactose plus glucose. Structure and isomerism Gal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ceramide
Ceramides are a family of waxy lipid molecules. A ceramide is composed of N-acetylsphingosine and a fatty acid. Ceramides are found in high concentrations within the cell membrane of eukaryotic cells, since they are component lipids that make up sphingomyelin, one of the major lipids in the lipid bilayer. Contrary to previous assumptions that ceramides and other sphingolipids found in cell membrane were purely supporting structural elements, ceramide can participate in a variety of cellular signaling: examples include regulating differentiation, proliferation, and programmed cell death (PCD) of cells. The word ''ceramide'' comes from the Latin ''cera'' (wax) and ''amide''. Ceramide is a component of vernix caseosa, the waxy or cheese-like white substance found coating the skin of newborn human infants. Pathways for ceramide synthesis There are three major pathways of ceramide generation. First, the sphingomyelinase pathway uses an enzyme to break down sphingomyelin in the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Galactosylceramide
A galactosylceramide, or galactocerebroside is a type of cerebroside consisting of a ceramide with a galactose residue at the 1-hydroxyl moiety. The galactose is cleaved by galactosylceramidase. Galactosylceramide is a marker for oligodendrocytes in the brain, whether or not they form myelin. Additional images File:Sphingolipid.png, Sphingolipid See also * Alpha-Galactosylceramide * Krabbe disease * Myelin Myelin is a lipid-rich material that surrounds nerve cell axons (the nervous system's "wires") to insulate them and increase the rate at which electrical impulses (called action potentials) are passed along the axon. The myelinated axon can be ... References External links *CHEMBL110111 Glycolipids {{biochemistry-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lysosomal
A lysosome () is a membrane-bound organelle found in many animal Cell (biology), cells. They are spherical Vesicle (biology and chemistry), vesicles that contain Hydrolysis, hydrolytic enzymes that can break down many kinds of biomolecules. A lysosome has a specific composition, of both its membrane proteins, and its lumen (anatomy), lumenal proteins. The lumen's pH (~4.5–5.0) is optimal for the enzymes involved in hydrolysis, analogous to the activity of the stomach. Besides degradation of polymers, the lysosome is involved in various cell processes, including secretion, plasma membrane repair, apoptosis, cell signaling, and energy metabolism. Lysosomes act as the waste disposal system of the cell by digesting used materials in the cytoplasm, from both inside and outside the cell. Material from outside the cell is taken up through endocytosis, while material from the inside of the cell is digested through autophagy. The sizes of the organelles vary greatly—the larger ones ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lactosylceramide
The Lactosylceramides, also known as LacCer, are a class of glycosphingolipids composed of a variable hydrophobic ceramide lipid and a hydrophilic sugar moiety. Lactosylceramides are found in microdomains on the plasma layers of numerous cells. Moreover, they are a type of ceramide including lactose, which is an example of a globoside. The chemical formula of Lactosylceramide is C42H79NO13, which has 806.088 g/mol of molar mass. Moreover, The IUPAC name of LacCer is N-(dodecanoyl)-1-beta-lactosyl-sphing-4-enine. Lactosylceramides were initially called 'cytolipin H'. It is found in small amounts just in most creature tissues, however, it has various huge organic capacities and it is of extraordinary significance as the biosynthetic forerunner of the greater part of the impartial oligoglycosylceramides, sulfatides and gangliosides. In creature tissues, biosynthesis of lactosylceramide includes expansion of the second monosaccharides unit (galactose) as its nucleotide subsidiary to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
