Order NO. D163451
产品描述
概述
This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina. 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 |
P24386
|
靶点基因 ID |
1121
|
靶点全称 |
CHM Rab escort protein
|
靶点别名 |
TCD; GGTA; REP-1; DXS540; HSD-32
|
靶点研究领域 |
Signal Transduction, Neuroscience
|
亚型 |
Immunogen-specific rabbit IgG
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