GALC

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolGALC
Namegalactosylceramidase
Typeprotein-coding
Sourcemygene

Summary

This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008].

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