HFE Protein, Polyclonal Antibody

Anti -HFE Protein (HLA-H)

For Research Use Only. Not for use in diagnostic procedures.

Chromosome: 6; NC_000006.11 (26087448..26097059). Location: 6p21.3

Polyclonal

IgG

Rabbit

Recognizes rat HFE Protein (HLA-H). Sequence homology:

Serum
Serum

Supplied as a liquid in PBS, 0.05% sodium azide, 40% glycerol.

May be stored at 4 degree C for short-term only. For long-term storage, aliquot and store at -20 degree C. Aliquots are stable for at least 12 months at -20 degree C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer.

Small volumes of anti-HFE antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Elemental iron is required for a variety of normal cellular functions and vital for proper growth and development. However, natural iron is quite insoluble and excess iron is harmful, since it can catalyze the formation of potentially damaging reactive oxygen species. Humans also have very limited capacity to excrete iron. Therefore, cells have developed mechanisms to improve solubility of iron and to control intracellular iron levels at the point of absorption in the intestine and other tissue. Several proteins including Ferritin, transferrin (Tf), transferrin receptors (TfRs), and iron regulatory proteins (IRPs), iron transporter (NRMAP2/DMT1/DCT1) etc play a key role in iron metabolism. Some genes involved in iron- metabolism are associated with genetic disorders such as Friedreich's Ataxia (Frataxin), genetic hemochromatosis (HFE), and Sex-linked anemia (Hephaestin). Hereditary hemochromatosis (HHC) is most common autosomal recessive disorder characterized by defective intestinal iron absorption, which lead to iron-overload in many tissues and toxic effects. The candidate gene for HHC encodes the HFE protein (formerly called HLA-H) resembling the major histocompatibility complex MHC class-1 molecule. HFE protein (mouse 359 aa, rat 360 aa, human 348 aa, ~48kD) is type I membrane protein. It is found in all tissues except brain. HFE protein binds too Tfr and reduces its affinity for iron-loaded Tf.

Antibodies; Abs to Proteins

ELISA (EL/EIA), Western Blot (WB)

Suitable for use in ELISA and Western Blot.
Dilution: Western Blot: 1:1000-1:5000
ELISA: 1:100,000

39,684 Da[Similar Products]

hemochromatosis

hereditary hemochromatosis protein; high Fe; OTTHUMP00000215786; OTTHUMP00000215787; OTTHUMP00000215788; OTTHUMP00000215789; OTTHUMP00000215790; OTTHUMP00000215791; OTTHUMP00000215792; OTTHUMP00000215793; OTTHUMP00000215816; OTTHUMP00000215817; OTTHUMP00000215818; MHC class I-like protein HFE; hereditary hemochromatosis protein HLA-H

HFE protein

Q6B0J5_HUMAN

The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq]

HFE: Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin. Defects in HFE are a cause of hemochromatosis (HFE). 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). 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. 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). 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 *****s. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. Belongs to the MHC class I family. 11 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: 6p21.3

Cellular Component: recycling endosome; integral to plasma membrane; apical part of cell; perinuclear region of cytoplasm; early endosome; plasma membrane; cytoplasmic vesicle; MHC class I protein complex

Molecular Function: protein binding; peptide antigen binding; antigen binding; receptor binding

Biological Process: antigen processing and presentation; antigen processing and presentation of peptide antigen via MHC class I; cellular iron ion homeostasis; positive regulation of T cell mediated cytotoxicity; protein complex assembly; immune response; hormone biosynthetic process; female pregnancy; cellular response to iron ion starvation

Disease: Microvascular Complications Of Diabetes, Susceptibility To, 7; Transferrin Serum Level Quantitative Trait Locus 2; Alzheimer Disease; Porphyria Variegata; Hemochromatosis, Type 1; Porphyria Cutanea Tarda

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