产品说明
一般描述
The cystinosin, lysosomal cystine transporter (CTNS) gene with 12 exons, spanning 23kb on genomic DNA, is mapped to human chromosome 17p13.3. The cystinosin protein contains seven-transmembrane-domains and is mainly localized in lysosomes.
This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. (provided by RefSeq)
免疫原
CTNS (NP_004928, 1 a.a. ~ 100 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Sequence
MIRNWLTIFILFPLKLVEKCESSVSLTVPPVVKLENGSSTNVSLTLRPPLNATLVITFEITFRSKNITILELPDEVVVPPGVTNSSFQVTSQNVGQLTVY
生化/生理作用
Cystinosin (CTNS) plays a vital role in migrating cystine out of lysosomes. Mutations in CTNS gene is associated with the development of cystinosis, an autosomal recessive disease characterized by intralysosomal accumulation of cystine.
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 | 5G6, monoclonal |
| 形式 | buffered aqueous solution |
| species reactivity | human |
| technique(s) | indirect ELISA: suitable western blot: 1-5 μg/mL |
| 同位素/亚型 | IgG2aκ |
| GenBank® accession no. | NM_004937 |
| UniProt登记号 | O60931 |
| 运输 | dry ice |
| 储存温度 | −20℃ |
| Gene Information | human ... CTNS(1497) |
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) |
