Role of GBA2 in Morbus Gaucher

GBA2, synonym for bile acid beta-glucosidase, is a highly conserved, membrane bound enzyme of the endoplasmic reticulum. GBA2-deficient mice accumulate glucosylceramide (GlcCer) in different tissues. The most common inherited defect in glycosphingolipid breakdown is M. Gaucher, arising from mutation in the gene encoding the lysosomal acid-ß-glucosidase (GBA1). GBA1 and GBA2 are both glycolipid hydrolases and catalyse the same reaction: The hydrolysis of glucosylceramide to glucose and ceramide. Despite this common function they do not share any sequence identity and expressed in different sub cellular compartmen…