Molecular weight (DA)
88kD
Immunogen
Synthesized peptide derived from part region of human protein
Specificity
TFR2 Polyclonal Antibody detects endogenous levels of protein.
Formulation
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Dilution rate
WB 1:500-2000 ELISA 1:5000-20000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
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],
Function
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 vari
Protein name
Transferrin receptor protein 2 (TfR2)
Human protein sequence Database
Q9UP52
Mouse protein sequence database
Q9JKX3
Rat protein sequence database
B2GUY2
Cellular localization
Cell membrane; Single-pass type II membrane protein.; [Isoform Beta]: Cytoplasm . Lacks the transmembrane domain. Probably intracellular.
Tissue expression
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.