Synonyms: Anti-D-glucosyl-N-acylsphingosine glucohydrolase; Anti-GBA; Anti-GBA1; Anti-Glucosidase, beta (Gluc); Anti-Glucosylceramidase (GlcCerase); Anti-Lysosomal glucocerebrosidase
Storage: -20C
UNSPSC Code: 12352203
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Application: Anti-Glucocerebrosidase antibody produced in rabbit is suitable for immunoblotting at a working concentration of 1-2mug/mL using HEK-293T cell lysate expressing human glucocerebrosidase (GBA).
Biochem/physiol Actions: GBA (glucosidase, beta, acid) gene encodes a protein that cleaves the β-glucosidic linkage of glycosylceramide (GlcCer), an intermediate in glycolipid metabolism. Mutations in the human GBA gene cause a reduction in the GBA activity and accumulation of GlcCer in lysosomes of cells of the reticuloendothelial system. This causes Gaucher disease (GD), an inherited lysosomal storage disorder, characterised by severe loss of neurons in the central nervous system, fetal onset, hydrops fetalis, in utero fetal death and neonatal distress. It leads to changes in neuronal functionality including increased levels of tubular endoplasmic reticulum (ER) elements, a large increase in Ca2+ release from the ER in response to glutamate, and an increased sensitivity to glutamate-induced neurotoxicity. Mutations in the human GBA gene may contribute to the development of common age-related dementia known as dementia with Lewy bodies or DLB and may cause early-onset of Parkinson disease.
Immunogen: synthetic peptide corresponding to amino acids 83-100 of human glucocerebrosidase (GBA), conjugated to KLH. This sequence is highly conserved in mouse and rat GBA (78% identity).
Physical form: Solution in 0.01 M phosÂphate buffered saline, pH 7.4, containing 15 mM sodium azide.
RIDADR: NONH for all modes of transport