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.
Immunogen
A synthetic peptide corresponding to a sequence within amino acids 249-348 of human HFE (Q30201).
PBS with 0.02% sodium azide,0.05% BSA,50% glycerol,pH7.3.
Anwendung
WB
Lagerklassenschlüssel
10 - Combustible liquids
WGK
WGK 1
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