Recombinant Human GBA protein, MYC/DDK-tagged GBA-178H

Recombinant Human GBA protein, MYC/DDK-tagged

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Recombinant Human GBA protein, MYC/DDK-tagged

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Cat.No. : GBA-178H
Product Overview : Recombinant Human GBA, transcript variant 2, fused with MYC/DDK tag at C-terminal was expressed in HEK293.
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;

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