| 產(chǎn)品編號(hào) | bs-13911R |
| 英文名稱 | Rabbit Anti-CHM antibody |
| 中文名稱 | 遺傳性脈絡(luò)膜缺乏癥相關(guān)蛋白抗體 |
| 別 名 | CHM; Chm; Choroideraemia protein; Choroideremia; DXS540; FLJ38564; GGTA; HSD 32; MGC102710; Rab escort protein 1; Rab geranylgeranyltransferase component A; Rab proteins geranylgeranyltransferase component A 1; RAE1_HUMAN; REP 1; REP-1; REP1; TCD; TCD protein. |
| 研究領(lǐng)域 | 細(xì)胞生物 神經(jīng)生物學(xué) 信號(hào)轉(zhuǎn)導(dǎo) |
| 抗體來(lái)源 | Rabbit |
| 克隆類型 | Polyclonal |
| 交叉反應(yīng) | (predicted: Human,Mouse,Rat) |
| 產(chǎn)品應(yīng)用 | IHC-P=1:100-500,IHC-F=1:100-500,ICC/IF=1:100-500,IF=1:100-500,ELISA=1:5000-10000
not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. |
| 理論分子量 | 73kDa |
| 細(xì)胞定位 | 細(xì)胞漿 |
| 性 狀 | Liquid |
| 濃 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human CHM: 301-400/653 |
| 亞 型 | IgG |
| 純化方法 | affinity purified by Protein A |
| 緩 沖 液 | 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol. |
| 保存條件 | Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles. |
| 注意事項(xiàng) | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
| PubMed | PubMed |
| 產(chǎn)品介紹 |
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, 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 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. SWISS: P24386 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 |
