HFE Human
Description
HFE is fused to a 24 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
Product Specs
Product Science Overview
Hemochromatosis is primarily caused by mutations in the HFE gene, which regulates iron absorption. The most common mutation associated with this disorder is C282Y. Individuals who inherit two copies of this mutated gene (one from each parent) are at a higher risk of developing hemochromatosis . However, not everyone with the genetic mutation will develop symptoms, indicating that other genetic or environmental factors may also play a role .
There are five types of hereditary hemochromatosis, each caused by different genetic mutations:
- Type 1: The most common form, related to the HFE gene.
- Type 2 (Juvenile Hemochromatosis): Caused by mutations in the HJV or HAMP genes.
- Type 3: Linked to mutations in the TFR2 gene.
- Type 4 (Ferroportin Disease): Caused by mutations in the SLC40A1 gene.
- Type 5: A rare form associated with mutations in the FTH1 gene .
Symptoms of hemochromatosis typically appear between the ages of 30 and 60 and can include fatigue, joint pain, abdominal pain, and skin discoloration. If left untreated, it can lead to severe complications such as liver cirrhosis, diabetes, and heart disease . Diagnosis is usually made through blood tests that measure iron levels, genetic testing, and liver biopsy .
While there is no cure for hemochromatosis, treatments are available to manage iron levels and prevent organ damage. The primary treatment is phlebotomy, a procedure to remove blood from the body, thereby reducing iron levels. In cases where phlebotomy is not feasible, chelation therapy may be used to bind excess iron and facilitate its excretion .
Human recombinant technology involves the use of genetically engineered cells to produce proteins or other substances that mimic natural human products. In the context of hemochromatosis, human recombinant proteins may be used in research to better understand the disease mechanisms and develop targeted therapies. These recombinant proteins can help in studying the interactions between iron-regulating genes and proteins, potentially leading to new treatment approaches.
