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3.2.1.46: galactosylceramidase

This is an abbreviated version!
For detailed information about galactosylceramidase, go to the full flat file.

Word Map on EC 3.2.1.46

Reaction

a D-galactosyl-N-acylsphingosine
+
H2O
=
D-galactose
 +
a ceramide

Synonyms

beta-galactocerebrosidase, beta-galactosylceramidase, ceramidase, galacatosyl-, ceramide galactosidase, cerebroside beta-galactosidase, cerebroside galactosidase, galactoceramidase, galactocerebrosidase, galactocerebroside beta-galactosidase, galactocerebroside galactosidase, galactocerebroside-beta-D-galactosidase, Galactosylceramidase, galactosylceramidase I, galactosylceramide beta-galactosidase, galactosylcerebrosidase, GALC, galcerase, GM1 ganglioside beta-galactosidase, lactosylceramidase, lactosylceramidase I

ECTree

     3 Hydrolases
         3.2 Glycosylases
             3.2.1 Glycosidases, i.e. enzymes that hydrolyse O- and S-glycosyl compounds
                3.2.1.46 galactosylceramidase

Cloned

Cloned on EC 3.2.1.46 - galactosylceramidase

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CLONED (Commentary)
ORGANISM
UNIPROT
LITERATURE
a specific neurologically relevant murine cell-line (145M-Twi) is modified to express common human hGALC-G270D mutant
expression in CHO cells
-
expression in lentiviral GALC vectors
-
expression vectors for different fusion-proteins are constructed: GALC, unmodified enzyme, GALC-MH: fusion protein containing a C-terminal myc-tag and six His residues, GALC-TMH: fusion protein containing in addition a Tat-PTD, the protein transduction domain derived from the HIV-1 Tat protein
-
exression in lentiviral GALC vectors
-
mutation in Krabbe disease
Newborn screening for Krabbe's disease, several variants in confirmed patients are identified. In some cases, polymorphisms is seen in cis with these variants. These variants are expressed in COS1 cells
nonsense mutation in Krabbe disease
-