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галактоцереброзидаза
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глобоидно-клеточная лейкодистрофия
Galactosylceramidase (or galactocerebrosidase) is an enzyme that in humans is encoded by the GALC gene. Galactosylceramidase is an enzyme which removes galactose from ceramide derivatives (galactosylceramides).
Galactosylceramidase is 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 galactosylceramide lipidosis.