Order NO. D163424
產品描述
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.
應用
酶聯免疫吸附測定(ELISA),免疫組織化學(IHC)
屬性
保存緩衝液 |
-20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
|
運輸條件 |
2-8°C
|
靶點 Uniprot 登記號 |
Q9BXQ6
|
靶點基因 ID |
27439
|
靶點全稱 |
transmembrane protein 121B
|
靶點別名 |
CECR6
|
靶點研究領域 |
Epigenetics and Nuclear Signaling
|
亞型 |
Immunogen-specific rabbit IgG
|