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Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: acid beta glucosidase; Acid beta-glucosidase; Alglucerase; Beta-GC; Beta-glucocerebrosidase; Beta-glucosylceramidase 1; Cholesterol glucosyltransferase; Cholesteryl-beta-glucosidase; D-glucosyl-N-acylsphingosine glucohydrolase; glucocerebrosidase; glucosylceramidase; Glucosylceramidase beta 1; Imiglucerase; Lysosomal acid GCase; Lysosomal acid glucosylceramidase; Lysosomal cholesterol glycosyltransferase; Lysosomal galactosylceramidase; Lysosomal glycosylceramidase; SGTase
基因别名: betaGC; GBA; GBA1; GC; GCase; GLUC
UniProt ID: (Mouse) P17439
Entrez Gene ID: (Mouse) 14466