Recombinant Human GBA protein, MYC/DDK-tagged

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.
Source :	HEK293
Species :	Human
Tag :	Myc&DDK
Form :	25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol.
Molecular Mass :	55.5 kDa
Purity :	> 80% as determined by SDS-PAGE and Coomassie blue staining.
Concentration :	>50 ug/mL as determined by microplate BCA method

Gene Name	GBA glucosidase, beta, acid [ Homo sapiens ]
Official Symbol	GBA
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-N-acylsphingosine glucohydrolase; GCB; GLUC;
Gene ID	2629
mRNA Refseq	NM_001005741
Protein Refseq	NP_001005741
MIM	606463
UniProt ID	P04062
Chromosome Location	1q22
Pathway	Glycosphingolipid metabolism, organism-specific biosystem; Lysosome, organism-specific biosystem; Lysosome, conserved biosystem; Metabolic pathways, organism-specific biosystem; Metabolism, organism-specific biosystem; Metabolism of lipids and lipoproteins, organism-specific biosystem; Other glycan degradation, organism-specific biosystem;
Function	cation binding; glucosylceramidase activity; hydrolase activity, acting on glycosyl bonds; receptor binding;