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蛋白质/抗原/多肽 >> 重组蛋白
重组溶质载体家族19成员3蛋白
重组溶质载体家族19成员3蛋白图片
交货期: 1周
索取资料及报价
交货期: 1周
半岛bd体育手机客户端 别名: Recombinant SLC19A3
Recombinant solute carrier family 19 member 3 protein
半岛bd体育手机客户端 介绍
基因名:

SLC19A3


半岛bd体育手机客户端 别名:

BBGD; THMD2; THTR2; thTr-2; SLC19A3; solute carrier family 19 member 3; solute carrier family 19 member 3; thiamine transporter 2; solute carrier family 19 (thiamine transporter), member 3; 溶质载体家族19成员3;


背景信息:
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 Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010]

标签:His-tag
分类:Recombinant
类型:Protein
偶联物:Unconjugated
内毒素水平:按批次,参阅瓶身标签
性状:Liquid
浓度:Batch dependent (Please refer to the vial label for the specific concentration.)
纯化类型:purified
内含物:不含防腐剂
应用:Positive Control;Immunogen;SDS-PAGE;WB.
储存:2-8°C不超过一个月,-80°C不超过12个月。避免反复冻融。
注意事项:仅供实验室使用。不适用于人类或动物的任何临床,治疗或诊断用途。不适合动物或人类食用。

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