| 產(chǎn)品編號(hào) | bs-19363R-BF488 |
| 英文名稱1 | Rabbit Anti-Sacsin/BF488 Conjugated antibody |
| 中文名稱 | BF488標(biāo)記的charlevoix-saguenay型痙攣性共濟(jì)失調(diào)Sacsin蛋白抗體 |
| 別 名 | DnaJ homolog subfamily C member 29; DNAJC29; SACS; SACS_HUMAN; Sacsin; spastic ataxia of Charlevoix-Saguenay. |
| 規(guī)格價(jià)格 | 100ul/2980元 購買 大包裝/詢價(jià) |
| 說 明 書 | 100ul |
| 研究領(lǐng)域 | 細(xì)胞生物 發(fā)育生物學(xué) 神經(jīng)生物學(xué) 表觀遺傳學(xué) |
| 抗體來源 | Rabbit |
| 克隆類型 | Polyclonal |
| 交叉反應(yīng) | (predicted: Human, Mouse, Rat, Pig, Rabbit, ) |
| 產(chǎn)品應(yīng)用 | ICC=1:50-200 IF=1:50-200
not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. |
| 分 子 量 | 521kDa |
| 性 狀 | Lyophilized or Liquid |
| 濃 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human Sacsin |
| 亞 型 | IgG |
| 純化方法 | affinity purified by Protein A |
| 儲(chǔ) 存 液 | 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol |
| 保存條件 | Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. |
| 產(chǎn)品介紹 |
background: This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that "the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins" (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] Function: Phosphoinositide phosphatase that hydrolyzes PtdIns3P and PtdIns4P. Has low activity towards PtdIns(3,5)P2 (By similarity). Co-chaperone which acts as a regulator of the Hsp70 chaperone machinery and may be involved in the processing of other ataxia-linked proteins. Subcellular Location: Cytoplasm. Predominantly cytoplasmic, a small portion is present in the nucleus and also shows a partial mitochondrial overlap with the mitochondrial marker Hsp60. Tissue Specificity: Highly expressed in the central nervous system. Also found in skeletal muscle and at low levels in pancreas. DISEASE: Defects in SACS are the cause of spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]. It is a neurodegenerative disease characterized by early-onset cerebellar ataxia, spasticity, retinal hypermyelination, pyramidal signs, and both axonal and demyelinating neuropathy with loss of sensory nerve conduction and reduced motor conduction velocities. Other features include dysarthria, distal muscle wasting, nystagmus, defect in conjugate pursuit ocular movements, retinal striation (from prominent retinal nerves) obscuring the retinal blood vessels in places, and the frequent presence of mitral valve prolapse. Similarity: Contains 1 HEPN domain. Contains 1 J domain. Contains 1 ubiquitin-like domain. Database links: Entrez Gene: 26278 Human Entrez Gene: 50720 Mouse Omim: 604490 Human SwissProt: Q9NZJ4 Human SwissProt: Q9JLC8 Mouse Unigene: 159492 Human Unigene: 440703 Mouse Unigene: 446687 Mouse Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
