产品说明

一般描述

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.

应用

Anti-Glucocerebrosidase antibody produced in rabbit has been used in western blotting and immunocytochemistry.
Anti-Glucocerebrosidase antibody produced in rabbit is suitable for immunoblotting at a working concentration of 1-2μg/mL using HEK-293T cell lysate expressing human glucocerebrosidase (GBA).

生化/生理作用

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.

外形

Solution in 0.01 M phos­phate buffered saline, pH 7.4, containing 15 mM sodium azide.

免责声明

Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.

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