galactosylceramidase; galactosylceramide beta-galactosidase; galactocerebroside beta-galactosidase; galactosylceraminidase; galactocerebrosidase (GALC)
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Function
- hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, & monogalactosyldiglyceride
- enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney & epithelial cells of small intestine & colon
D-galactosyl-N-acylsphingosine + H2O
<-->
D-galactose + N-acylsphingosine
Kinetic parameters:
- Optimum pH is 4.0-4.4
- Temperature dependence: activity is lost after heating at 52 degrees C for 5 minutes
Structure
belongs to the glycosyl hydrolase 59 family
Compartment
Alternative splicing
named isoforms=2
Expression
- highest level of activity in testes compared to brain, kidney, placenta & liver
- also be found in urine
Pathology
- mutations associated with globoid cell leukodystrophy (GLD) or Krabbe disease
Polymorphism
- polymorphic amino-acid changes are responsible for the wide range of catalytic activities found in the general population
Laboratory
- GALC gene mutation
- galactosylceramidase in amniotic fluid
- galactosylceramidase in dried blood spot
- galactosylceramidase in fibroblasts
- galactosylceramidase in leukocytes
- galactosylceramidase in tissue
More general terms
References
- ↑ OMIM https://mirror.omim.org/entry/245200
- ↑ Genedis; Krabbe disease website http://life2.tau.ac.il/Genedis/Tables/Krabbe/krabbe.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=GALC
- ↑ UniProt http://www.uniprot.org/uniprot/P54803.html