点击图片查看原图
Rabbit Anti-SLC19A3/FITC Conjugated antibody
FITC标记的溶质载体家族19成员3抗体
| 英文名称 | Anti-SLC19A3/FITC |
| 中文名称 | FITC标记的溶质载体家族19成员3抗体 |
| 别 名 | Solute carrier family 19 member 3; Thiamine transporter 2; thTr 2; THTR2. |
| 规格价格 | 100ul/2980元 购买 大包装/询价 |
| 说 明 书 | 100ul |
| 研究领域 | 细胞生物 神经生物学 信号转导 转运蛋白 跨膜蛋白 |
| 抗体来源 | Rabbit |
| 克隆类型 | Polyclonal |
| 交叉反应 | Human, Mouse, Rat, |
| 产品应用 | 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 | 56kDa |
| 性 状 | Lyophilized or Liquid |
| 浓 度 | 2mg/1ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human SLC19A3 |
| 亚 型 | IgG |
| 纯化方法 | affinity purified by Protein A |
| 储 存 液 | 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. |
| 保存条件 | 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. |
| 产品介绍 | background: This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild mental retardation, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernickes-like encephalopathy.[provided by RefSeq, Jan 2010] Function: Mediates high affinity thiamine uptake, propably via a proton anti-port mechanism. Has no folate transport activity. Subcellular Location: Plasma membrane. Tissue Specificity: Widely expressed but most abundant in placenta, kidney and liver. DISEASE: The disease is caused by mutations affecting the gene represented in this entry. Disease description:An autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. Similarity: Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family. Database links: Entrez Gene: 80704 Human Omim: 606152 Human SwissProt: Q9BZV2 Human Unigene: 221597 Human Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
该基因编码一种普遍表达的缺乏叶酸转运活性的跨膜硫胺素转运体。该基因的突变导致生物素应答性基底神经节疾病(BBGD)；一种隐性疾病，表现在儿童期，如果不治疗，进展为慢性脑病、肌张力障碍、四肢瘫痪和死亡。BBGD患者在尾状核头部和壳核两侧坏死。在疾病的早期进展中给予大剂量生物素消除了病理症状，而延迟治疗则导致残余性瘫痪、轻度智力低下或肌张力障碍。硫胺素的治疗在治疗这种疾病方面无效。实验没有显示出这种蛋白质能运输生物素。该基因的突变也会导致韦尼克氏脑病。[ RefSeq，2010月1日]
