"GBA" Related Products

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Recombinant Human GBA protein, MYC/DDK-tagged

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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