HFE Protein, Human (HLA-H) Control Peptide

A 15-aa peptide sequence within the N-terminus of human HFE.\n\nElemental 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).\n\nHereditary 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.\n\nApplications:\nSuitable for use in ELISA. and Antibody Blocking. Not suitable for Western Blot due to low MW: < 3kD. Other applications not tested.\n\nRecommended Dilutions: \nELISA: Coat with 50-100ng Control Peptide/well\nAntibody Blocking: Use 5-10ug per 1ul of H2700 serum or 1ug of H2700-60 affinity purified.\nOptimal dilutions to be determined by the researcher.\n\nStorage and Stability: \nMay be stored at 4 degrees C for short-term only. For long-term storage, aliquot and store at -20 degrees C. Aliquots are stable for at least 12 months at -20 degrees 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.

Prices direct from United States Biological

Quick response times

Exclusive Biosave savings/discounts

SPECIFICATIONS

Catalog Number

H2700-20

Size

50ug

Applications

ELISA, WB

Reactivities

Hum

Form

Supplied as a liquid in PBS, pH 7.5

Purity

Highly purified

References

1.. Riegert P et al (1998) Immunogenetics 47, 174; Hashimoto K et al (1997) BBRC 230, 35; 2. Feder Jn et al (1996) Nat. genet. 13, 399; 3. Roberts AG et al (1997) Lancet 349, 321; 4. Zuccpn L et al (2000) Haematologia 85, 346; Parkkila S et al (2000) Haematologia 85, 340; 5. Griffiths W et al (2000) Hum. Mol. Genet. 9, 2377\n

Additional Info

100% conserved in human delE3 variant HFE (256 aa); 562-878 variant (242-aa); delE4 variant (334-aa), del#3-7 variant (161 aa), 495-2314del variants (145-aa) and delE3, intron3ins, intron4ins variant (175-aaa