| 產(chǎn)品編號(hào) | bs-11760R-Cy5 |
| 英文名稱 | Rabbit Anti-SPG48/Cy5 Conjugated antibody |
| 中文名稱 | Cy5標(biāo)記的SPG48蛋白抗體 |
| 別 名 | Hypothetical protein LOC9907; KIAA0415; Uncharacterized protein KIAA0415; AP5Z1_HUMAN. |
| 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 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) | Human, |
| 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 | 89kDa |
| 性 狀 | Lyophilized or Liquid |
| 濃 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human SPG48 (288-370aa) |
| 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: Chromosome 7 is about 158 milllion bases long, encodes over 1000 genes and makes up about 5% of the human genome. Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia. KIAA0415 is a 807 amino acid protein that exists as three alternatively spliced isoforms. The KIAA0415 gene product has been provisionally designated KIAA0415 pending further characterization. Function: The function of SPG48 remains unknown. There are 3 named isoforms produced by alternative splicing. Subunit: Probably part of the adapter protein complex 5 (AP-5) atetramer composed of AP5B1, AP5M1, AP5S1 and AP5Z1. Interacts withZFYVE26 and SPG11. Subcellular Location: Cytoplasm. Nucleus. Note=By SDS-PAGE, 2isoforms have been observed, the shorter seems to be predominantlynuclear and the longer is mostly cytoplasmic (PubMed:20613862). DISEASE: Defects in AP5Z1 are the cause of spastic paraplegiaautosomal recessive type 48 (SPG48) [MIM:613647]. A form of spasticparaplegia, a neurodegenerative disorder characterized by a slow,gradual, progressive weakness and spasticity of the lower limbs.Rate of progression and the severity of symptoms are quitevariable. Initial symptoms may include difficulty with balance,weakness and stiffness in the legs, muscle spasms, and dragging thetoes when walking. In some forms of the disorder, bladder symptoms(such as incontinence) may appear, or the weakness and stiffnessmay spread to other parts of the body. Database links: UniProtKB/Swiss-Prot: O43299.2 Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
