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Glycoside hydrolase family 30
In molecular biology, glycoside hydrolase family 30 is a family of glycoside hydrolases.
Glycoside hydrolases are a widespread group of enzymes that hydrolyse the glycosidic bond between two or more carbohydrates, or between a carbohydrate and a non-carbohydrate moiety. A classification system for glycoside hydrolases, based on sequence similarity, has led to the definition of 100 different families. This classification is available on the CAZy web site, and also discussed at CAZypedia, an online encyclopedia of carbohydrate active enzymes.
Glycoside hydrolase family 30 CAZY GH_30 includes the mammalian glucosylceramidases. Human acid beta-glucosidase (D-glucosyl-N-acylsphingosine glucohydrolase), cleaves the glucosidic bonds of glucosylceramide and synthetic beta-glucosides. Any one of over 50 different mutations in the gene of glucocerebrosidase have been found to affect activity of this hydrolase, producing variants of Gaucher disease, the most prevalent lysosomal storage disease.
References
References
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- (March 1986). "Human acid beta-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site". Proceedings of the National Academy of Sciences of the United States of America.
- (August 1997). "Differences in origin of the 1448C mutation in patients with Gaucher disease". Acta Paediatrica Japonica.
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