Galactosylceramidase (or galactocerebrosidase), EC 3.2.1.46, 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]
^ abc"Entrez Gene: galactosylceramidase".
^Lee WC, Tsoi YK, Troendle FJ, et al. (August 2007). "Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy". FASEB J. 21 (10): 2520–2527. doi:10.1096/fj.06-6169com. PMID 17403939. S2CID 19511563.
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Galactosylceramidase (or galactocerebrosidase), EC 3.2.1.46, is an enzyme that removes galactose from ceramide derivatives (galactosylceramides) by catalysing...
galactose residue at the 1-hydroxyl moiety. The galactose is cleaved by galactosylceramidase. Galactosylceramide is a marker for oligodendrocytes in the brain...
Mutations in the GALC gene cause a deficiency of an enzyme called galactosylceramidase. In rare cases, it may be caused by a lack of active saposin A (a...
Pomeranians. It is a neurological disease wherein the dog lacks the enzyme galactosylceramidase. The symptoms are noticeable as the puppy develops, and can be identified...
cytotoxic lipid that accumulates in the nervous system in the absence of galactosylceramidase. Chemically, it is a galactoside of sphingosine. Hawkins-Salsbury...
activity), and Krabbe disease (caused by a deficiency of the enzyme galactosylceramidase). Progressive Spongiform Leukoencephalopathy (PSL)—which is a spongiform...
and needles sensation in the extremities) b) Galactocerebroside (galactosylceramidase) accumulation – Krabbe disease. Jurevics, H; Hostettler, J; Muse...
glycocerebroside by glycosylceramidase and galactocerebroside by galactosylceramidase. Saposin D is not well known to due lack of investigation at this...
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