Tel: 1-631-626-9181 (USA)   44-207-097-1828 (Europe)

CBpromise   

Our promise to you:
Guaranteed product quality, expert customer support.

24x7 CUSTOMER SERVICE
CONTACT US TO ORDER

gba

Bookmark and Share
Official Full Name
glucosidase, beta, acid
Background
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.
Synonyms
GBA; glucosidase, beta, acid; GLUC, glucosidase, beta; acid (includes glucosylceramidase) , glucosylceramidase; glucosylceramidase; GBA1; alglucerase; imiglucerase; acid beta-glucosidase; beta-glucocerebrosidase; lysosomal glucocerebrosidase; D-glucosyl