Galactosylceramidase
Encyclopedia
Galactosylceramidase is an enzyme
that in humans is encoded by the GALC gene
. Galactosylceramidase is an enzyme which removes galactose
from ceramide
derivatives (galactocerebroside
s).
ester bonds of galactocerebroside
, galactosylsphingosine, lactosylceramide
, and monogalactosyldiglyceride.
, also known as globoid cell leukodystrophy.
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...
that in humans is encoded by the GALC 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...
. Galactosylceramidase is an enzyme which removes galactose
Galactose
Galactose , sometimes abbreviated Gal, is a type of sugar that is less sweet than glucose. It is a C-4 epimer of glucose....
from ceramide
Ceramide
Ceramides are a family of lipid molecules. A ceramide is composed of sphingosine and a fatty acid. Ceramides are found in high concentrations within the cell membrane of cells. They are one of the component lipids that make up sphingomyelin, one of the major lipids in the lipid bilayer...
derivatives (galactocerebroside
Galactocerebroside
A 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....
s).
Function
Galactosylceramidase is a lysosomal protein which hydrolyzes the galactoseGalactose
Galactose , sometimes abbreviated Gal, is a type of sugar that is less sweet than glucose. It is a C-4 epimer of glucose....
ester bonds of galactocerebroside
Galactocerebroside
A 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....
, galactosylsphingosine, lactosylceramide
Lactosylceramide
Lactosylceramide is a type of ceramide incorporating lactose.An example is CDw17 antigen.-See also:* Lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase* Lactosylceramide alpha-2,3-sialyltransferase* GAL3ST1* ST3GAL5...
, and monogalactosyldiglyceride.
Pathology
Mutations in this gene have been associated with Krabbe diseaseKrabbe disease
Krabbe disease is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system. This condition is inherited in an autosomal recessive pattern...
, also known as globoid cell leukodystrophy.