Product Name	HFE
Chinese Name	遗传性血色病蛋白相关蛋白1抗体
Alias	dJ221C16.10.1; Hemochromatosis; Hemochromatosis protein; Hereditary hemochromatosis protein; Hereditary hemochromatosis protein HLA H; HFE 1; HFE; HFE_HUMAN; HFE1; HH; High Fe; HLA H; HLA-H; HLAH; MGC:150812; MGC10379; MGC103790; MHC class I like protein HFE; MVCD7; TFQTL2.
literatures	Specific References  (1)     |     SL12335R has been referenced in 1 publications. [IF=5.008] Rychtarcikova, Zuzana, et al. "Tumor-initiating cells of breast and prostate origin show alterations in the expression of genes related to iron metabolism." Oncotarget (2016).  WB ;  Human.   PubMed:28031527
Research Area	Tumour  Cardiovascular  Cell biology  Neurobiology  Signal transduction  Diabetes  The new supersedes the old
Immunogen Species	Rabbit
Clonality	Polyclonal
React Species	Human,  (predicted: Mouse, Rat, Dog, Cow, Horse, Sheep, )
Applications	ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 Flow-Cyt=1μg/Test ICC=1:100-500 IF=1:100-500 （Paraffin sections need antigen repair） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
Theoretical molecular weight	38kDa
Cellular localization	The cell membrane
Form	Liquid
Concentration	1mg/ml
immunogen	KLH conjugated synthetic peptide derived from Human HFE/Hemochromatosis: 262-348/348 <Extracellular>
Lsotype	IgG
Purification	affinity purified by Protein A
Buffer Solution	0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
Storage	Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Attention	This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed	PubMed
Product Detail	The features of hemochromatosis include cirrhosis of the liver, diabetes, hypermelanotic pigmentation of the skin, and heart failure. Since hemochromatosis is a relatively easily treated disorder if diagnosed, this is a form of preventable cancer. The HFE protein, which is defective in hereditary hemo-chromatosis, normally is expressed in crypt enterocytes of the duodenum where it has a unique, predominantly intracellular localization. In placenta, the HFE protein co-localizes with and forms a stable association with the transferrin receptor (TfR), providing a link between the HFE protein and iron transport. Immunocytochemistry shows that the HFE protein and TfR both are expressed in the crypt enterocytes. Western blots show that, as is the case in human placenta, the HFE protein in crypt enterocytes is physically associated with the TfR and with β2-microglobulin. It is proposed that HFE has two mutually exclusive activities in cells: inhibition of uptake or inhibition of release of iron and that the balance between serum transferrin saturation and serum transferrin-receptor concentrations determines which of these functions predominates. The gene which encodes HFE maps to human chromosome 6p21.3. Function: Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin. Subunit: Binds TFR through the extracellular domain in a pH-dependent manner. Subcellular Location: Membrane; Single-pass type I membrane protein. Tissue Specificity: Expressed in all tissues tested except brain. DISEASE: Defects in HFE are a cause of hemochromatosis (HFE) [MIM:235200]. A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Defects in HFE are associated with variegate porphyria (VP) [MIM:176200]. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. VP is the most common form of porphyria in South Africa. It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease. Note=Iron overload due to HFE mutations is a precipitating or exacerbating factor in variegate porphyria. Defects in HFE are associated with susceptibility to microvascular complications of diabetes type 7 (MVCD7) [MIM:612635]. These are pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. Similarity: Belongs to the MHC class I family. Contains 1 Ig-like C1-type (immunoglobulin-like) domain. SWISS: Q30201 Gene ID: 3077 Database links: Entrez Gene: 3077 Human Omim: 613609 Human SwissProt: Q30201 Human Unigene: 233325 Human
Product Picture	Blank control (blue line): HL60(fixed with 70% ethanol Overnight at 4℃). Primary Antibody (green line): Rabbit Anti-iHFE antibody (SL12335R),Dilution: 0.2μg /10^6 cells; Isotype Control Antibody (orange line): Rabbit IgG . Secondary Antibody (white blue line): Goat anti-rabbit IgG-PE,Dilution: 1μg /test.

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