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
X-ray diffraction data () from mouse models indicates that GALC is an estimated 77 kDa protein consisting of 656 residues, which form a secondary structure containing 12 α-helices and 41 β-strands. Each β-strand contains three to eleven residues.
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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