Galactosylceramidase
(Redirected from GALC)
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Galactosylceramidase (or galactocerebrosidase), Template:EnzExplorer, is an enzyme that removes galactose from ceramide derivatives (galactosylceramides) by catalysing the hydrolysis of galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride.[1]
It is a lysosomal protein, encoded in humans by the GALC gene.[1][2] Mutations in this gene have been associated with Krabbe disease, also known as galactosylceramide lipidosis.[1]
References
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Further reading
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External links
- GeneReviews/NCBI/NIH/UW entry on Krabbe disease
- OMIM entries on Krabbe disease
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- PDBe-KB provides an overview of all the structure information available in the PDB for Mlouse Galactocerebrosidase
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