84-1044-99　HFE Protein (HLA-H) 100ug　H2700-60

特徴

• 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 (1:100K using 50-100ng control peptide/well)
• Optimal dilutions to be determined by the researcher.
• Control peptides, 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.
• 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.