Order NO. D124093
产品描述
概述
This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene.
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 |
O76024
|
靶点基因 ID |
7466
|
靶点全称 |
Wolfram syndrome 1 (wolframin)
|
靶点别名 |
WFS; WFRS; WFSL; CTRCT41
|
靶点研究领域 |
Signal Transduction, Cancer, Metabolism, Neuroscience
|
亚型 |
Immunogen-specific rabbit IgG
|