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Rabbit Anti-SLC19A3  antibody (bs-8702R)  
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產(chǎn)品編號 bs-8702R
英文名稱 Rabbit Anti-SLC19A3  antibody
中文名稱 溶質(zhì)載體家族19成員3抗體
別    名 Solute carrier family 19 member 3; Thiamine transporter 2; thTr 2; THTR2.  
研究領(lǐng)域 細胞生物  神經(jīng)生物學  信號轉(zhuǎn)導  轉(zhuǎn)運蛋白  跨膜蛋白  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應 Mouse (predicted: Human,Rat)
產(chǎn)品應用 WB=1:500-2000,IHC-P=1:100-500,IHC-F=1:100-500,ICC/IF=1:100-500,IF=1:100-500,ELISA=1:5000-10000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 56kDa
細胞定位 細胞膜 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human SLC19A3: 261-360/496 <Extracellular>
亞    型 IgG
純化方法 affinity purified by Protein A
緩 沖 液 Preservative: 0.02% Proclin300, Constituents: 1% BSA, 0.01M PBS, pH7.4.
保存條件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事項 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
產(chǎn)品介紹 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]

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.

SWISS:
Q9BZV2

Gene ID:
80704

Database links:

Entrez Gene: 80704 Human

Omim: 606152 Human

SwissProt: Q9BZV2 Human

Unigene: 221597 Human



產(chǎn)品圖片
Sample: Liver (Mouse) Lysate at 40 ug Primary: Anti-SLC19A3 (bs-8702R) at 1/300 dilution Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution Predicted band size: 56 kD Observed band size: 56 kD
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