biological source
mouse
Quality Level
conjugate
unconjugated
antibody form
purified immunoglobulin
antibody product type
primary antibodies
clone
2e2, monoclonal
form
buffered aqueous solution
species reactivity
human
technique(s)
immunohistochemistry (formalin-fixed, paraffin-embedded sections): suitable, indirect ELISA: suitable, indirect immunofluorescence: suitable, western blot: 1-5 μg/mL
isotype
IgG2aκ
GenBank accession no.
UniProt accession no.
shipped in
dry ice
storage temp.
−20°C
target post-translational modification
unmodified
Gene Information
human ... GBA(2629)
General description
GBA (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 β‐sheets, domain II with two β‐sheets making an immunoglobulin‐like domain and domain III with eight‐stranded β/αtriosephosphate isomerase (TIM) barrel.
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 encoding the same protein. (provided by RefSeq)
Immunogen
GBA (NP_000148, 146 a.a. ~ 235 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Sequence
SYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGS
Sequence
SYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGS
Application
Monoclonal Anti-GBA antibody has been used in immunofluorescence staining.
Biochem/physiol Actions
GBA (β-glucocerebrosidase) is responsible for the conversion of the glycolipid glucocerebroside to ceramide and glucose. Mutations in this gene are associated with Gaucher disease and Parkinson disease.
Physical form
Solution in phosphate buffered saline, pH 7.4
Legal Information
GenBank is a registered trademark of United States Department of Health and Human Services
Disclaimer
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.
存储类别
10 - Combustible liquids
flash_point_f
Not applicable
flash_point_c
Not applicable
ppe
Eyeshields, Gloves, multi-purpose combination respirator cartridge (US)
法规信息
低风险生物材料
常规特殊物品
此项目有
Altered Differentiation Potential of Gaucher?s Disease iPSC Neuronal Progenitors due to Wnt/b-Catenin Downregulation
Awad O, et al.
Stem Cell Reports, 9 (2017)
The relationship between glucocerebrosidase mutations and Parkinson disease
Migdalska-Richards A and Schapira AH
Journal of Neurochemistry (2016)
Rodolfo Tonin et al.
Journal of neurology, 266(1), 92-101 (2018-11-02)
Patients with Gaucher Disease (GD) exhibit three phenotypes, including type 1 (non-neuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic). Identifying which GBA changes represent benign polymorphisms and which may result in disease-causing mutations is essential for diagnosis and
全球贸易项目编号
| 货号 | GTIN |
|---|---|
| WH0002629M1-100UG | 04061832742489 |