Glucocerebrosidase
Encyclopedia
β-Glucocerebrosidase is an enzyme
with glucosylceramidase
activity that is needed to cleave, by hydrolysis
, the beta-glucosidic linkage
of the chemical glucocerebroside
, an intermediate in glycolipid
metabolism. It is localized in the lysosome
and has a molecular weight of 59700 Daltons
.
Mutation
s in the glucocerebrosidase gene
cause Gaucher's disease
, a lysosomal storage disease
characterized by an accumulation of glucocerebrosides. A related pseudogene
is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing
results in multiple transcript variants encoding the same protein.
In November 2008 mutations in the glucocerebrosidase gene were the mutations with the strongest association with Parkinson's disease
in the PDGene database.
The initial study that examined this link was published in 2004.
Enzyme
Enzymes are proteins that catalyze chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical reactions in a biological cell need enzymes in order to occur at rates...
with glucosylceramidase
Glucosylceramidase
In enzymology, a glucosylceramidase is an enzyme that catalyzes the chemical reactionThus, the two substrates of this enzyme are D-glucosyl-N-acylsphingosine and H2O, whereas its two products are D-glucose and N-acylsphingosine....
activity that is needed to cleave, by hydrolysis
Hydrolysis
Hydrolysis is a chemical reaction during which molecules of water are split into hydrogen cations and hydroxide anions in the process of a chemical mechanism. It is the type of reaction that is used to break down certain polymers, especially those made by condensation polymerization...
, the beta-glucosidic linkage
Glycosidic bond
In chemistry, a glycosidic bond is a type of covalent bond that joins a carbohydrate molecule to another group, which may or may not be another carbohydrate....
of the chemical glucocerebroside
Glucocerebroside
Glucocerebroside is any of the cerebrosides in which the monosaccharide head group is glucose.-Clinical significance:...
, an intermediate in glycolipid
Glycolipid
Glycolipids are lipids with a carbohydrate attached. Their role is to provide energy and also serve as markers for cellular recognition.-Metabolism:...
metabolism. It is localized in the lysosome
Lysosome
thumb|350px|Schematic of typical animal cell, showing subcellular components. [[Organelle]]s: [[nucleoli]] [[cell nucleus|nucleus]] [[ribosomes]] [[vesicle |vesicle]] rough [[endoplasmic reticulum]]...
and has a molecular weight of 59700 Daltons
Atomic mass unit
The unified atomic mass unit or dalton is a unit that is used for indicating mass on an atomic or molecular scale. It is defined as one twelfth of the rest mass of an unbound neutral atom of carbon-12 in its nuclear and electronic ground state, and has a value of...
.
Mutation
Mutation
In molecular biology and genetics, mutations are changes in a genomic sequence: the DNA sequence of a cell's genome or the DNA or RNA sequence of a virus. They can be defined as sudden and spontaneous changes in the cell. Mutations are caused by radiation, viruses, transposons and mutagenic...
s in the glucocerebrosidase gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
cause Gaucher's disease
Gaucher's disease
Gaucher's disease is a genetic disease in which a fatty substance accumulates in cells and certain organs.Gaucher's disease is the most common of the lysosomal storage diseases. It is caused by a hereditary deficiency of the enzyme glucosylceramidase. The enzyme acts on the fatty acid...
, a lysosomal storage disease
Lysosomal storage disease
Lysosomal storage diseases are a group of approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function...
characterized by an accumulation of glucocerebrosides. A related pseudogene
Pseudogene
Pseudogenes are dysfunctional relatives of known genes that have lost their protein-coding ability or are otherwise no longer expressed in the cell...
is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing
Alternative splicing
Alternative splicing is a process by which the exons of the RNA produced by transcription of a gene are reconnected in multiple ways during RNA splicing...
results in multiple transcript variants encoding the same protein.
In November 2008 mutations in the glucocerebrosidase gene were the mutations with the strongest association with Parkinson's disease
Parkinson's disease
Parkinson's disease is a degenerative disorder of the central nervous system...
in the PDGene database.
The initial study that examined this link was published in 2004.
See also
- Closely related enzymes
- GBA2GBA2Non-lysosomal glucosylceramidase is an enzyme that in humans is encoded by the GBA2 gene. It has glucosylceramidase activity.- Function :...
: acid β-glucosidase (bile acid), also - GBA3GBA3Cytosolic 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 :...
: acid β-glucosidase (cytosolic),
- GBA2
- Recombinant glucocerebrosidases used as drugs
- AlgluceraseAlgluceraseAlglucerase is a modified form of human β-glucocerebrosidase where the non-reducing ends of the oligosaccharide chains have been terminated with mannose residues. Ceredase is the trade name of a citrate buffered solution of...
- ImigluceraseImigluceraseImiglucerase is a medication used in the treatment of Gaucher's disease.It is a recombinant DNA-produced analogue of human β-glucocerebrosidase....
- Velaglucerase
- Alglucerase