产品名称
TFR2 Rabbit Polyclonal Antibody
蛋白名称
Transferrin receptor protein 2 (TfR2)
存储缓冲液
Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.
Human Swissprot No.
Q9UP52
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q9UP52/entry
Mouse Swissprot No.
Q9JKX3
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q9JKX3
Rat Swissprot Link
http://www.uniprot.org/uniprot/O54941B2GUY2
免疫原
Synthesized peptide derived from part region of human protein
特异性
TFR2 Polyclonal Antibody detects endogenous levels of protein.
稀释度
WB 1:500-2000 ELISA 1:5000-20000
宿主
Polyclonal, Rabbit,IgG
背景介绍
This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011],
组织表达
Predominantly expressed in liver. While the alpha form is also expressed in spleen, lung, muscle, prostate and peripheral blood mononuclear cells, the beta form is expressed in all tissues tested, albeit weakly.
细胞定位
Cell membrane; Single-pass type II membrane protein.; [Isoform Beta]: Cytoplasm . Lacks the transmembrane domain. Probably intracellular.
功能
disease:Defects in TFR2 are a cause of hereditary hemochromatosis type 3 (HFE3) [MIM:604250]. HFE3 is a disorder of iron hemostasis resulting in iron overload and has a phenotype indistinguishable from that of hereditary hemochromatosis (HH). HH is characterized by abnormal intestinal iron absorption and progressive increase of total body iron, which results in midlife in clinical complications including cirrhosis, cardiopathy, diabetes, endocrine dysfunctions, arthropathy, and susceptibility to liver cancer. Since the disease complications can be effectively prevented by regular phlebotomies, early diagnosis is most important to provide a normal life expectancy to the affected subjects.,function:Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation.,miscellaneous:The variant Lys-172 found in hereditary hemochromatosis type III affects the putative initiation codon of the beta isoform thus preventing its translation.,similarity:Belongs to the peptidase M28 family. M28B subfamily.,subcellular location:Lacks the transmembrane domain. Probably intracellular.,subunit:Homodimer.,tissue specificity:Predominantly expressed in liver. While the alpha form is also expressed in spleen, lung, muscle, prostate and peripheral blood mononuclear cells, the beta form is expressed in all tissues tested, albeit weakly.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
