Family

Glycoside hydrolase, family 30 (IPR001139)

Short name: Glyco_hydro_30

Family relationships

None.

Description

O-Glycosyl hydrolases (EC:3.2.1.) 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 glycosyl hydrolases, based on sequence similarity, has led to the definition of 85 different families [PMID: 7624375, PMID: 8535779]. This classification is available on the CAZy (CArbohydrate-Active EnZymes) web site.

Glycoside hydrolase family 30 GH30 comprises enzymes with only one known activity; glucosylceramidase (EC: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 [PMID: 3456607]. 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 [PMID: 3456607, PMID: 9316290].

GO terms

Biological Process

GO:0006665 sphingolipid metabolic process

Molecular Function

GO:0004348 glucosylceramidase activity

Cellular Component

No terms assigned in this category.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
Pfam
PANTHER
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