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.
The HFE Cys282-Tyr (C282Y) is homozygous in 83-100% of HHC subjects in the US and North Europe, and Australia.
The C282Y mutation results in the loss of a structural disulfide bond in the alpha-3 domain of the protein, which prevents association with beta-2 microglobulin and proper presentation to the surface.
Defects in HFE are also a cause of porphyria cutanes tarda (PCT), a disorder characterized by light-sensitive dermatitis and presence of large amounts of uroporphyrin in urine.
Applications:Suitable for use in ELISA, Western Blotting.
Other applications not tested.
Recommended Dilution:Western Blot: 1:1000-1:5000 for antiserum and 1-10ug/ml for aff.
pure IgG using ECL.
ELISA: ~1:100,000 using 50-100ng control peptide/well.
Optimal dilutions to be determined by the researcher.
Storage and Stability:May be stored at 4°C for short-term only.
For long-term storage and to avoid repeated freezing and thawing, aliquot and add glycerol (40-50%).
Freeze at -20°C.
Aliquots are stable for at least 12 months at -20°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.
仕様
Size：100ug
Host：rabbit
Source Antibody：rat
Grade：Affinity Purified
Purity：Purified by immunoaffinity chromatography.
Form：Supplied as a liquid in PBS, pH 7.4 and 0.09% sodium azide, 40% glycerol.
Specificity：The rat sequence is 100% conserved in rat HFE protein homolog RT1-CAFÉ (360-aa), HFE splice variants delE2 (14E4) (172 aa), 83% in mouse, 72% in rhinoceros and 61% in human HFE. We recommend the use for human HFE. Control peptide, because of the small size (2-3kD), is not recommended for Western. It should be used in ELISA or antibody blocking (use 5-10 ug control peptide per 1 ug of IgG or 1 ul of antiserum) experiments to demonstrate antibody specificity
Isotype：IgG
Calc Applications Abbrev：E WB
Calc Crossreactivity：Rt
Immunogen：An 18-aa peptide sequence within the C-terminus of rat HFE (1) was synthesized, coupled to KLH
