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]

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

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.