Galactosylceramidase (GALC) is a hydrolase [1] (fix reference) that removes galactose from ceramide derivatives (reference). Galactosylceramidase in humans is encoded by the gene GALC, and mutations in this gene are associated with Krabbe disease, or globoid cell leukodystrophy [2].
Structure
Function
Disease
Defects in this enzyme cause the disease known in humans as Krabbe disease. Krabbe disease is a neurodegenerative disorder characterized by widespread demyelination caused by reduced or mutated function of GALC[2].
Relevance
Structural highlights
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