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GBA / Glucosidase Beta Acid 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.
Gene Name: | glucosidase, beta, acid |
Synonyms: | GBA, Acid beta-glucosidase, Beta-glucocerebrosidase, GBA1, Glucosidase, beta, acid, GLUC, GCB, Lysosomal glucocerebrosidase, Metaxin, MTXN, Glucosylceramidase |
Target Sequences: | NM_000157 NP_000148.2 P04062 |
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