GBA antibody

GeneTex

GBA antibody

9

Research Use Only

1.78 mg/ml

IgG

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 encoding the same protein. [provided by RefSeq]

2°C to 8°C,-20°C

12352203