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GBA / Glucosidase Beta Acid

glucosidase, beta, acid

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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PLEASE NOTE

For RESEARCH USE ONLY. Intended for use by laboratory professionals. Not intended for human diagnostic or therapeutic purposes.

The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).