GBA Polyclonal Antibody

This gene 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.

Acid beta glucosidase; Acid beta-glucosidase; Alglucerase; Beta glucocerebrosidase; BETA GLUCOSIDASE; ACID; Beta-glucocerebrosidase; betaGC; D glucosyl N acylsphingosine glucohydrolase; D-glucosyl-N-acylsphingosine glucohydrolase; EC 3.2.1.45 ; GBA; Gba protein ; GBA1; GC; GCase; GCB; GLCM; GLUC; Glucocerebrosidase (alt.) ; Glucocerebrosidase; GLUCOCEREBROSIDASE PSEUDOGENE; Glucosidase beta; Glucosidase; beta; acid; Glucosidase; beta; acid (includes glucosylceramidase) ; Glucosylceramidase; Imiglucerase; Lysosomal glucocerebrosidase ; OTTHUMP00000033992; OTTHUMP00000033993