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Merck
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重要文件

G4046

Sigma-Aldrich

Anti-Glucocerebrosidase 兔抗

enhanced validation

~1 mg/mL, affinity isolated antibody, buffered aqueous solution

同義詞:

Anti-D-glucosyl-N-acylsphingosine glucohydrolase, Anti-GBA, Anti-GBA1, Anti-Glucosidase, beta (Gluc), Anti-Glucosylceramidase (GlcCerase), Anti-Lysosomal glucocerebrosidase

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About This Item

分類程式碼代碼:
12352203
NACRES:
NA.41
共軛:
unconjugated
application:
WB
無性繁殖:
polyclonal
物種活性:
mouse, human, rat
citations:
12
技術:
western blot: 1-2 μg/mL using HEK-293T cell lysate expressing human glucocerebrosidase (GBA) or SH-SY-5Y cell lysate

生物源

rabbit

品質等級

共軛

unconjugated

抗體表格

affinity isolated antibody

抗體產品種類

primary antibodies

無性繁殖

polyclonal

形狀

buffered aqueous solution

分子量

antigen ~60 kDa

物種活性

mouse, human, rat

加強驗證

recombinant expression
Learn more about Antibody Enhanced Validation

濃度

~1 mg/mL

技術

western blot: 1-2 μg/mL using HEK-293T cell lysate expressing human glucocerebrosidase (GBA) or SH-SY-5Y cell lysate

UniProt登錄號

運輸包裝

dry ice

儲存溫度

−20°C

目標翻譯後修改

unmodified

基因資訊

human ... GBA(2629)
mouse ... Gba(14466)

一般說明

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.

應用

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.

外觀

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

免責聲明

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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儲存類別代碼

12 - Non Combustible Liquids

水污染物質分類(WGK)

WGK 1

閃點(°F)

Not applicable

閃點(°C)

Not applicable

個人防護裝備

Eyeshields, Gloves, multi-purpose combination respirator cartridge (US)


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The relationship between glucocerebrosidase mutations and Parkinson disease
Migdalska RA, et al.
Journal of Neurochemistry, 1-1 (2016)
E Korkotian et al.
The Journal of biological chemistry, 274(31), 21673-21678 (1999-07-27)
Gaucher disease is a glycosphingolipid storage disease caused by defects in the activity of the lysosomal hydrolase, glucocerebrosidase (GlcCerase), resulting in accumulation of glucocerebroside (glucosylceramide, GlcCer) in lysosomes. The acute neuronopathic type of the disease is characterized by severe loss
K P Zimmer et al.
The Journal of pathology, 188(4), 407-414 (1999-08-10)
Gaucher's disease (GD) is caused by an inherited deficiency of acid beta-glucosidase with storage of glucosylceramides in the lysosomes of macrophages. This study identifies a G202R mutation in the acid beta-glucosidase gene in an infant with severe neuronopathic (type 2)
Dermal fibroblasts from patients with Parkinson?s disease have normal GCase activity and autophagy compared to patients with PD and GBA mutations
Collins LM, et al.
F1000Research (2017)
Individualized screening for chaperone activity in Gaucher disease using multiple patient derived primary cell lines
Ivanova MM, et al.
American Journal of Translational Research, 10(11), 3750-3750 (2018)

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