Anti-D-glucosyl-N-acylsphingosine glucohydrolase, Anti-GBA1, Anti-GBA, Anti-Glucosidase, beta (Gluc), Anti-Glucosylceramidase (GlcCerase), Anti-Lysosomal glucocerebrosidase Chemische Eigenschaften,Einsatz,Produktion Methoden
Verwenden
Anti-Glucocerebrosidase antibody produced in rabbit has been used in western blotting and immunocytochemistry.
Allgemeine Beschreibung
GBA1 (β-glucocerebrosidase) gene is mapped to human chromosome 1q21. It is a lysosomal enzyme and is widely expressed. The protein has domain I with three stranded anti?parallel βsheets, domain II with two β sheets making an immunoglobulin like domain and domain III with eight stranded β/α triosephosphate isomerase (TIM) barrel.
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.
Anti-D-glucosyl-N-acylsphingosine glucohydrolase, Anti-GBA1, Anti-GBA, Anti-Glucosidase, beta (Gluc), Anti-Glucosylceramidase (GlcCerase), Anti-Lysosomal glucocerebrosidase Upstream-Materialien And Downstream Produkte
Upstream-Materialien
Downstream Produkte
