产品说明
一般描述
GCS1 cleaves the distal alpha 1,2-linked glucose residue from the Glc(3)Man(9)GlcNAc(2) oligosaccharide precursor in a highly specific manner. Defects in GCS1 are the cause of type IIb congenital disorder of glycosylation (CDGIIb). This syndrome is also known as glucosidase I deficiency and is characterized by marked generalized hypotonia and hypomotility of the neonate, dysmorphic features, including a prominent occiput, short palpebral fissures, retrognathia, high arched palate, generalized edema, and hypoplastic genitalia. Symptoms include hepatomegaly, hypoventilation, feeding problems and seizures. The clinical course is progressive and survival is at most a few months.
免疫原
GCS1 (GCS1_HUMAN, 801-836)
This antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide selected form the C-terminal region of human GCS1.
外形
Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide.
基本信息
| NACRES | NA.41 |
产品性质
| 生物来源 | rabbit |
| 质量水平 | 100 |
| 偶联物 | unconjugated |
| 抗体形式 | IgG fraction of antiserum |
| antibody product type | primary antibodies |
| 克隆 | polyclonal |
| 形式 | buffered aqueous solution |
| species reactivity | mouse, human |
| technique(s) | indirect ELISA: 1:1000 western blot: 1:100-1:500 |
| NCBI登记号 | NP_006293.2 |
| UniProt登记号 | Q13724 |
| 运输 | dry ice |
| 储存温度 | −20℃ |
| Gene Information | human ... GCS1(7841) |
安全信息
| 储存分类代码 | 12 - Non Combustible Liquids |
| WGK | nwg |
| 闪点(F) | Not applicable |
| 闪点(C) | Not applicable |
Sigma-Aldrich
m.cnreagent.com
