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GBA glucosylceramidase beta

Also known as: GCB; GBA1; GLUC

Summary

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. [provided by RefSeq, Jan 2010]

Genomic context

Location:
1q22
Sequence:
Chromosome: 1; NC_000001.11 (155234448..155244862, complement)
Total number of exons:
12

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