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Category:GO:0004336 ! galactosylceramidase activity
name: galactosylceramidase activity
namespace: molecular_function
def: "Catalysis of the reaction: D-galactosyl-N-acylsphingosine + H2O = D-galactose + N-acylsphingosine." [EC:3.2.1.46]
synonym: "beta-galactocerebrosidase activity" EXACT [EC:3.2.1.46]
synonym: "beta-galactosylceramidase activity" EXACT [EC:3.2.1.46]
synonym: "ceramide galactosidase activity" EXACT [EC:3.2.1.46]
synonym: "cerebroside beta-galactosidase activity" EXACT [EC:3.2.1.46]
synonym: "cerebroside galactosidase activity" EXACT [EC:3.2.1.46]
synonym: "D-galactosyl-N-acylsphingosine galactohydrolase activity" EXACT [EC:3.2.1.46]
synonym: "galactocerebrosidase activity" EXACT [EC:3.2.1.46]
synonym: "galactocerebroside beta-galactosidase activity" EXACT [EC:3.2.1.46]
synonym: "galactocerebroside galactosidase activity" EXACT [EC:3.2.1.46]
synonym: "galactocerebroside-beta-D-galactosidase activity" EXACT [EC:3.2.1.46]
synonym: "galactosylceramidase I" RELATED [EC:3.2.1.46]
synonym: "galactosylceramide beta-galactosidase activity" EXACT [EC:3.2.1.46]
synonym: "galactosylcerebrosidase activity" EXACT [EC:3.2.1.46]
synonym: "galcerase activity" EXACT [EC:3.2.1.46]
synonym: "lactosylceramidase activity" EXACT [EC:3.2.1.46]
synonym: "lactosylceramidase I" RELATED [EC:3.2.1.46]
xref: EC:3.2.1.46
xref: MetaCyc:GALACTOSYLCERAMIDASE-RXN
xref: Reactome:REACT_115737 "Galactocerebrosidase cleaves the galactosyl bond of galactocerebroside to form ceramide, Homo sapiens"
xref: RHEA:14300
is_a: GO:0004553 ! hydrolase activity, hydrolyzing O-glycosyl compounds
AmiGO
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Usage Notes
Galactosylceramidase (GALC) is responsible for the lysosomal hydrolysis of certain galactolipids, which produce galactose after hydrolysis. [1]
In humans, galactolipids are found primarily in the kindneys and brain. When galactosylceramidase is deficient in human brain cells, galactolipids accumulate in myeline-producing cells. This has been proven to be toxic to the cells, leading to Krabbe disease.
See Also
Galactosylceramidase deficiency and Krabbe Disease [1]
Activation of galactosylceramidase by phosphatidylserine [2]
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 Wenger DA et al. (2000) Krabbe disease: genetic aspects and progress toward therapy. Mol Genet Metab 70: 1-9 PubMed GONUTS page
- ↑ Hanada E & Suzuki K (1980) Specificity of galactosylceramidase activation by phosphatidylserine. Biochim Biophys Acta 619: 396-402 PubMed GONUTS page
