Glucosylceramidase beta (GBA) Rabbit mAb

$98.56

Weight 3 lbs
Dimensions 5 × 5 × 5 in
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SKU: Abclonal-A19057 Category:

Description

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.

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