Hemojuvelin / HFE2 Protein (His Tag)

Hemochromatosis type 2 (juvenile) Protein Datasheet

Hemojuvelin / HFE2 Protein Product Information

• Synonym: HFE2A, HJV, JH, RGMC
• Protein Construction: A DNA sequence encoding the mature form of human HFE2 isoform a (Q6ZVN8-1) （Met 1-Ser 399）was fused with a polyhistidine tag at the C-terminus.
• Source: Human
• Expression Host: Baculovirus-Insect cells

Hemojuvelin / HFE2 Protein QC Testing

• Purity: > 95 % as determined by SDS-PAGE
• Endotoxin: < 1.0 EU per μg of the protein as determined by the LAL method
• Stability: Samples are stable for up to twelve months from date of receipt at -70℃
• Predicted N terminal: Gln 36
• Molecular Mass: The secreted recombinant human HFE2 consists of 374 amino acids and predicts a molecular mass of 40 kDa. As a result of intracellular cleavage, the apparent molecular mass of the protein is approximately 20, 34 and 44 KDa in SDS-PAGE under reducing conditions, corresponding to the N-terminal, C-terminal portions and the full-length respectively.
• Formulation: Lyophilized from sterile PBS, 500mM Nacl, pH 7.0, 10% gly.
  1. Normally 5 % - 8 % trehalose and mannitol are added as protectants before lyophilization. Specific concentrations are included in the hardcopy of COA.
  2. Please contact us for any concerns or special requirements.
• SDS-PAGE: Hemojuvelin / HFE2 protein

Hemojuvelin / HFE2 Protein Usage Guide

• Storage: Store it under sterile conditions at -70℃. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.
• Reconstitution: A hardcopy of COA with reconstitution instruction is sent along with the products. Please refer to it for detailed information.

Hemojuvelin / HFE2 Protein Description

Hemojuvelin, also known as HFE2, is a membrane-bound and soluble protein which belongs to the repulsive guidance molecule (RGM) family. It can be detected in adult and fetal liver, heart, and skeletal muscle. Hemojuvelin may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. It plays a key role in iron metabolism. Hemojuvelin acts as a bone morphogenetic protein (BMP) coreceptor. Enhancement of BMP signaling regulates hepcidin (HAMP) expression and iron metabolism. It may cooperate with hepcidin to restrict iron absorption in the gut. Defects in hemojuvelin are the cause of hemochromatosis type 2A, also known as juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. It is the consequence of intestinal iron hyperabsorption associated with macrophages that do not load iron.

References

1. Papanikolaou G. et al., 2004, Nat Genet. 36 (1): 77-82.
2. Babitt JL. et al., 2006, Nat Genet. 38 (5): 531-9.
3. Zhang AS. et al., 2008, J Biol Chem. 283 (25): 17494-502.