Recombinant Human GBA protein, MYC/DDK-tagged

• Cat.No.: GBA-179H
• Product Overview: Recombinant Human GBA, transcript variant 3, fused with MYC/DDK tag at C-terminal was expressed in HEK293.

Specification

• Species: Human
• Source: HEK293
• Tag: DDK&Myc
• 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.
• 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 Information

• 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_001005742
• Protein Refseq: NP_001005742
• 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