InterPro domain: IPR033452

Glycoside hydrolase family 30 GH30 comprises enzymes with only one known activity; glucosylceramidase ( 3.2.1.45 ).

Family 30 encompasses the mammalian glucosylceramidases. Human acid beta-glucosidase (D-glucosyl-N-acylsphingosine glucohydrolase),cleaves the glucosidic bonds of glucosylceramide and synthetic beta-glucosides [ 1 ]. 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 [ 2 , 2 ].

This beta sandwich domain is found in proteins from the glycosyl hydrolase family 30.

1. Human acid beta-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site. null 83, 1660-4
2. Differences in origin of the 1448C mutation in patients with Gaucher disease. Proc. Natl. Acad. Sci. U.S.A. 39, 451-3