Glucosylceramidase/GBA Products

Description

GBA 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.

Bioinformatics

Entrez	2629 Human
Uniprot	AAH03356 Human AAH03356.1 Human NM_000157 Human NM_001005741 Human NP_000148 Human NP_000148.2 Human NP_001005742 Human P04062 Human
Product By Gene ID	2629
Alternate Names	Acid beta-glucosidase alglucerase Alglucerase Beta-glucocerebrosidase beta-glucocerebrosidase D-glucosyl-N-acylsphingosine glucohydrolase EC 3.2.1.45 GBA1 GC GCB GLUC glucosidase, beta, acid glucosidase, beta; acid (includes glucosylceramidase) glucosylceramidase imiglucerase Imiglucerase lysosomal glucocerebrosidase

Research Areas for Glucosylceramidase/GBA

Find related products by research area and learn more about each of the different research areas below.

Lipid and Metabolism