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| Cat.No | ACP02224 | Target Name | GBA1 |
|---|---|---|---|
| Target Synonyms | acid (includes glucosylceramidase); Glucosylceramidase; Imiglucerase; Lysosomal glucocerebrosidase; OTTHUMP00000033992; OTTHUMP00000033993, Acid beta glucosidase; Acid beta-glucosidase; Alglucerase; Beta glucocerebrosidase; BETA GLUCOSIDASE, acid; Glucosidase, beta | Form | Liquid or Lyophilized powder |
| Expression System | Baculovirus | Expression Range | 40-536aa(N409S) |
| Mol Weight | 58.1 kDa | Protein Length | Full Length of Mature Protein |
| Purity | Greater than 85% as determined by SDS-PAGE. | Storage Buffer | 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0. |
| Target Species | Human | Uniprot ID | P04062 |
|---|
Uniprot Id
P04062
Target Species
Human
Target Name
GBA1
Target Full Name
Lysosomal acid glucosylceramidase
Target Function
Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramide/GlcCer into free ceramide and glucose. Thereby, plays a central role in the degradation of complex lipids and the turnover of cellular membranes. Through the production of ceramides, participates in the PKC-activated salvage pathway of ceramide formation. Also plays a role in cholesterol metabolism. May either catalyze the glucosylation of cholesterol, through a transglucosylation reaction that transfers glucose from glucosylceramide to cholesterol. The short chain saturated C8:0-GlcCer and the mono-unsaturated C18:0-GlcCer being the most effective glucose donors for that transglucosylation reaction. Under specific conditions, may alternatively catalyze the reverse reaction, transferring glucose from cholesteryl-beta-D-glucoside to ceramide. Finally, may also hydrolyze cholesteryl-beta-D-glucoside to produce D-glucose and cholesterol.
Target Involvement
Gaucher disease (GD); Gaucher disease 1 (GD1); Gaucher disease 2 (GD2); Gaucher disease 3 (GD3); Gaucher disease 3C (GD3C); Gaucher disease perinatal lethal (GDPL); Parkinson disease (PARK)
Target Subcellular Location
Lysosome membrane; Peripheral membrane protein; Lumenal side.
Target Protein Families
Glycosyl hydrolase 30 family
Target Research Area
Neuroscience
Target Synonyms
Acid beta glucosidase; Acid beta-glucosidase; Alglucerase; Beta glucocerebrosidase; BETA GLUCOSIDASE, ACID; Beta-glucocerebrosidase; betaGC; D glucosyl N acylsphingosine glucohydrolase; D-glucosyl-N-acylsphingosine glucohydrolase; EC 3.2.1.45; GBA; Gba protein; GBA1; GC; GCase; GCB; GLCM_HUMAN; GLUC; Glucocerebrosidase (alt.); Glucocerebrosidase; GLUCOCEREBROSIDASE PSEUDOGENE; Glucosidase beta; Glucosidase, beta, acid; Glucosidase, beta, acid (includes glucosylceramidase); Glucosylceramidase; Imiglucerase; Lysosomal glucocerebrosidase; OTTHUMP00000033992; OTTHUMP00000033993
Target 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.
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