catalog number :
MBS9219135
products type :
Blocking Peptide
products full name :
TFR2 Antibody (C-term) Blocking peptide
products short name :
[TFR2]
products name syn :
[Transferrin receptor protein 2; TfR2; TFR2]
other names :
[Transferrin receptor protein 2; Transferrin receptor protein 2; transferrin receptor protein 2; transferrin receptor 2]
products gene name :
[TFR2]
other gene names :
[TFR2; TFR2; HFE3; TFRC2; TfR2]
uniprot entry name :
TFR2_HUMAN
form :
Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.
storage stability :
Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.
other info1 :
Cellular Location: Cell membrane; Single-pass type II membrane protein. Peptide: 100311174
other info2 :
Tissue Location: 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
products description :
This gene is a member of the transferrin receptor-likefamily and encodes a single-pass type II membrane protein with aprotease associated (PA) domain, an M28 peptidase domain and atransferrin receptor-like dimerization domain. This proteinmediates cellular uptake of transferrin-bound iron and mutations inthis gene have been associated with hereditary hemochromatosis typeIII. Alternatively
spliced variants which encode different proteinisoforms have been described; however,not all variants have beenfully characterized
ncbi pathways :
Iron Metabolism In Placenta Pathway (672461)
ncbi summary :
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]
uniprot summary :
TFR2: Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Defects in TFR2 are a cause of hemochromatosis type 3 (HFE3). 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. Belongs to the peptidase M28 family. M28B subfamily. 3 isoforms of the human protein are produced by alternative splicing. Protein type: Receptor, misc.; Membrane protein, integral. Chromosomal Location of Human Ortholog: 7q22. Cellular Component: cytoplasmic vesicle; external side of plasma membrane; integral to plasma membrane. Molecular Function: glycoprotein binding; protein binding; transferrin receptor activity. Biological Process: cellular iron ion homeostasis; iron ion homeostasis; positive regulation of endocytosis; positive regulation of transcription from RNA polymerase II promoter; receptor-mediated endocytosis; response to iron ion; transferrin transport. Disease: Hemochromatosis, Type 3