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货号： bs-8702R-PE 基本售价： 2980.0 元 规格： 100ul
产品信息
- 产品编号
- bs-8702R-PE
- 英文名称
- Anti-SLC19A3/PE
- 中文名称
- PE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: 80704Human
Omim: 606152Human
SwissProt: Q9BZV2Human
Unigene: 221597Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.