The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined.
Background References
1. Milman NT. et. al. Diagnosis and Treatment of Genetic HFE-Hemochromatosis: The Danish Aspect. Gastroenterology Res. 2019 Oct
2. Katsarou MS. et. al. Hemochromatosis: Hereditary hemochromatosis and HFE gene. Vitam Horm. 2019
Western blot analysis of HFE on different lysates with Rabbit anti-HFE antibody (HA720039) at 1/5,000 dilution.
Lane 1: HeLa cell lysate Lane 2: A375 cell lysate Lane 3: Caco-2 cell lysate
Lysates/proteins at 20 µg/Lane.
Predicted band size: 40 kDa Observed band size: 45 kDa
Exposure time: 1 minute; ECL: K1801;
4-20% SDS-PAGE gel.
Proteins were transferred to a PVDF membrane and blocked with 5% NFDM/TBST for 1 hour at room temperature. The primary antibody (HA720039) at 1/5,000 dilution was used in primary antibody dilution (K1803) at 4℃ overnight. Goat Anti-Rabbit IgG - HRP Secondary Antibody (HA1001) at 1/50,000 dilution was used for 1 hour at room temperature.
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