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HAF007). A specific band was detected for Glucosylceramidase/GBA at approximately 60 kDa (as indicated). This experiment was conducted under reducing conditions and using Immunoblot Buffer Group 1." class="big_lightbox" target="_blank">
HAF007). A specific band was detected for Glucosylceramidase/GBA at approximately 65 kDa (as indicated) in the parental HeLa human cervical epithelial carcinoma cell line, but is not detectable in knockout HeLa human cervical epithelial carcinoma cell line. GAPDH (MAB5718) is shown as a loading control. This experiment was conducted under reducing conditions and using Western Blot Buffer Group 1." class="big_lightbox" target="_blank">
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 encoding the same protein.