Order NO. D163424
产品描述
概述
Candidate gene for the Cat Eye Syndrome (CES), a developmental disorder associated with the duplication of a 2 Mb region of 22q11.2. Duplication usually takes in the form of a surpernumerary bisatellited isodicentric chromosome, resulting in four copies of the region (represents an inv dup(22)(q11)). CES is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development.
应用
酶联免疫吸附测定(ELISA),免疫组织化学(IHC)
属性
保存缓冲液 |
-20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
|
运输条件 |
2-8°C
|
靶点 Uniprot 登记号 |
Q9BXQ6
|
靶点基因 ID |
27439
|
靶点全称 |
transmembrane protein 121B
|
靶点别名 |
CECR6
|
靶点研究领域 |
Epigenetics and Nuclear Signaling
|
亚型 |
Immunogen-specific rabbit IgG
|