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Recombinant Human GBA therapeutic protein

Cat.No.: GBA-P028H
Product Overview: Recombinant Human β-glucocerebrosidase therapeutic protein is the recombinant active form of the human lysosomal enzyme, β-glucocerebrosidase for use in patients with type 1 Gaucher's disease. It is a modified form of glucocerebrosidase and is provided to counter this enzyme deficiency, resulting in smaller liver and spleen size, and improved thrombocytopenia and anemia. This recombinant enzyme is different from human glucocerebrosidase by two amino acids at the N terminal and up to 7 amino acids at the C terminal. It allows the hydrolysis reaction of glucocerebroside to glucose and ceramide that naturally occurs in healthy individuals.
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.
Species: Human
Molecular Mass: 56637.9397
Endotoxin: < 0.1 EU per μg of the protein
Purity: >98%
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_000157
Protein Refseq: NP_000148
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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