产品说明
一般描述
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)
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.
免疫原
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
应用
Monoclonal Anti-GBA antibody has been used in immunofluorescence staining.
生化/生理作用
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.
外形
Solution in phosphate buffered saline, pH 7.4
法律信息
GenBank is a registered trademark of United States Department of Health and Human Services
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.
基本信息
| NACRES | NA.41 |
产品性质
| 质量水平 | 100 |
| 生物来源 | mouse |
| 偶联物 | unconjugated |
| 抗体形式 | purified immunoglobulin |
| antibody product type | primary antibodies |
| 克隆 | 2e2, monoclonal |
| 形式 | 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 |
| 同位素/亚型 | IgG2aκ |
| GenBank® accession no. | NM_000157 |
| UniProt登记号 | P04062 |
| 运输 | dry ice |
| 储存温度 | −20℃ |
| Gene Information | human ... GBA(2629) |
安全信息
| 储存分类代码 | 12 - Non Combustible Liquids |
| 闪点(F) | Not applicable |
| 闪点(C) | Not applicable |
| 个人防护装备 | Eyeshields, Gloves, multi-purpose combination respirator cartridge (US) |
