| 產(chǎn)品編號 | bs-4006R-Bio |
| 英文名稱 | Rabbit Anti-ARSA/Biotin Conjugated antibody |
| 中文名稱 | 生物素標(biāo)記的芳基硫酸酯酶A抗體 |
| 別 名 | As 2; As2; ASA; metachromatic leucodystrophy; TISP73; arylsulfatase A; AS A; MLD. |
| 規(guī)格價格 | 100ul/2980元 購買 大包裝/詢價 |
| 說 明 書 | 100ul |
| 研究領(lǐng)域 | 免疫學(xué) 神經(jīng)生物學(xué) |
| 抗體來源 | Rabbit |
| 克隆類型 | Polyclonal |
| 交叉反應(yīng) | (predicted: Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, ) |
| 產(chǎn)品應(yīng)用 | WB=1:50-200 ELISA=1:100-1000 IHC-P=1:50-200 IHC-F=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 | 47/54kDa |
| 性 狀 | Lyophilized or Liquid |
| 濃 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human ARSA (368-412aa) |
| 亞 型 | IgG |
| 純化方法 | affinity purified by Protein A |
| 儲 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: The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]. Function: Hydrolyzes cerebroside sulfate. Subunit: Homodimer at neutral pH and homooctamer at acidic pH. Exists both as a single chain of 58 kDa (component A) or as a chain of 50 kDa (component B) linked by disulfide bond(s) to a 7 kDa chain (component C). Interacts with SUMF1. Subcellular Location: Lysosome. Post-translational modifications: The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. This post-translational modification is severely defective in multiple sulfatase deficiency (MSD). DISEASE: Defects in ARSA are a cause of leukodystrophy metachromatic (MLD) [MIM:250100]. MLD is a disease due to a lysosomal storage defect. It is characterized by intralysosomal storage of cerebroside-3-sulfate in neural and non-neural tissues, with a diffuse loss of myelin in the central nervous system. Progressive demyelination causes a variety of neurological symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, and spastic tetraparesis. Three forms of the disease can be distinguished according to the age at onset: late-infantile, juvenile and adult. Arylsulfatase A activity is defective in multiple sulfatase deficiency (MSD) [MIM:272200]. A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. Note=Arylsulfatase A activity is impaired in multiple sulfatase deficiency due to mutations in SUMF1. SUMF1 mutations result in defective post-translational modification of ARSA at residue Cys-69 that is not converted to 3-oxoalanine. Similarity: Belongs to the sulfatase family. Database links: Entrez Gene: 410 Human Entrez Gene: 11883 Mouse Omim: 607574 Human SwissProt: P15289 Human SwissProt: P50428 Mouse Unigene: 88251 Human Unigene: 620 Mouse Unigene: 23323 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. ArsA蛋白是存在于微生物細胞膜上的一種亞砷酸根陰離子泵的水溶性部分。在亞砷酸根存在的情況下。ArsA具有ATP酶活力。它水解ATP,發(fā)生構(gòu)象變化.芳基硫酯酶A（ArylsulfataseA， ARSA）的缺陷，使溶酶體內(nèi)腦硫酯水解受阻，沉積于中樞神經(jīng)系統(tǒng)的白質(zhì)、周圍神經(jīng)系統(tǒng)及其它內(nèi)臟組織，導(dǎo)致異染性腦白質(zhì)營養(yǎng)不良（Metachromatic Leukodystrophy，MLD），他是一種較常見的腦白質(zhì)營養(yǎng)不良，也是一種最常見的溶酶體病，為常染色體隱性遺傳。 |
