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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| GBA-20-RE | 20 (40 μL) | 200 μL |  |
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| GBA-20-OR | 20 (40 μL) | 200 μL |  |
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| GBA-20-GO | 20 (40 μL) | 200 μL |  |
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| GBA-20-GR | 20 (40 μL) | 200 μL |  |
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| GBA-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : GBA
Gene Name : Glucosylceramidase beta
Chromosome : CHR 1: 155,244,861-155,234,447
Locus : 1q22
Alt. Genes : CEBPZ
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