GBA encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants.
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Protein Aliases: Acid beta-glucosidase; Alglucerase; Beta-GC; Beta-glucocerebrosidase; Cholesterol glucosyltransferase; Cholesteryl-beta-glucosidase; D-glucosyl-N-acylsphingosine glucohydrolase; GBA1; GCB; GLUC; glucosidase, beta, acid; glucosylceramidase; glucosylceramidase-like protein; Imiglucerase; Lysosomal acid GCase; Lysosomal acid glucosylceramidase; lysosomal glucocerebrosidase; SGTase
Gene Aliases: GBA; GBA1; GC; GCB; GLUC
UniProt ID: (Human) P04062
Entrez Gene ID: (Human) 2629