GBA (NM_001005741) Human Recombinant Protein
Product Specifications
Background
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. [provided by RefSeq, Jan 2010]
Synonyms
GBA1; GCB; GLUC
Gene ID
2629
UniProt
P04062, B7Z6S9, A0A068F658
Accession Number mRNA
NM_001005741
Chromosomal Location
1q22
Expression System
E. coli
Tag
N-GST and C-His
Related Pathways
Lysosome, Metabolic pathways, Other glycan degradation, Sphingolipid metabolism
Field of Research
Lysosome, Metabolic pathways, Other glycan degradation, Sphingolipid metabolism
Concentration
>50 ug/mL as determined by microplate BCA method
Purity
> 80% as determined by SDS-PAGE and Coomassie blue staining
Form
Liquid
Buffer
50mM Tris, pH8.0, 8M Urea.
Function
Druggable Genome
Molecular Weight
83.5 kDa
Storage Conditions
Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.
Symbol
GBA
Species
Human
Protein ID
NP_001005741
Overview
Purified recombinant protein of Human glucosidase, beta, acid (GBA), transcript variant 2, full length, with N-terminal GST and C-terminal His tag, expressed in E. coli, 50ug
Gene ID URL
https://www.ncbi.nlm.nih.gov/gene/2629
Uniprot URL
https://www.uniprot.org/uniprot/P04062
Accession Number mRNA URL
https://www.ncbi.nlm.nih.gov/nuccore/NM_001005741
Protein ID Link
https://www.ncbi.nlm.nih.gov/nuccore/NP_001005741
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