遗传性脉络膜缺乏症相关蛋白抗体
规格：1mg/1ml
英文名： CHM
别名： CHM; Chm; Choroideraemia protein; Choroideremia; DXS540; FLJ38564; GGTA; HSD 32; MGC102710; Rab escort protein 1; Rab geranylgeranyltransferase component A; Rab proteins geranylgeranyltransferase comp
分子量： 73kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human CHM
交叉反应：Human, Mouse, Rat,
细胞定位：
遗传性脉络膜缺乏症相关蛋白抗体产品介绍：background: 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. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009] Function: Binds unprenylated Rab proteins,遗传性脉络膜缺乏症相关蛋白抗体 presents it to the catalytic Rab GGTase dimer, and remains bound to it after the geranylgeranyl transfer reaction. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Also a pre-formed complex consisting of CHM and the Rab GGTase dimer (RGGT or component B) can bind to and prenylate Rab proteins; this alternative pathway is proposed to be the predominant pathway for Rab protein geranylgeranylation. Subcellular Location: Belongs to the Rab GDI family. DISEASE: Defects in遗传性脉络膜缺乏症相关蛋白抗体 CHM are the cause of choroideremia (CHM) [MIM:303100]. An X-linked recessive disease characterized by a slowly progressive degeneration of the choroid, photoreceptors, and retinal pigment epithelium. Affected males develop night blindness in their teenage years followed by loss of peripheral vision and complete blindness at middle age. Carrier females are generally asymptomatic but funduscopic examination often shows patchy areas of chorioretinal atrophy. Gene ID: 1121 Database links: Entrez Gene: 1121 Human Entrez Gene: 12662 Mouse Omim: 300390 Human SwissProt: P24386 Human SwissProt: Q9QXG2 Mouse Unigene: 496449 Human Unigene: 257316 Mouse Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
遗传性脉络膜缺乏症相关蛋白抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：细胞生物 神经生物学 信号转导
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid