Rabbit anti-Human Glucosylceramidase beta (GBA) Monoclonal Antibody

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.