Immunogen sequence: SSQMWLQLSQ SLKGWDHMFT VDFWTIMENH NHSKESHTLQ VILGCEMQED NSTEGYWKYG YDGQDHLEFC PDTLDWRAAE PRAWPTKLEW ERHKIRARQN RAYLERDCPA QLQQLLELGR GVLDQQVPPL VKVTHHVTSS VTTLRCRALN YYPQNITMKW LKDKQPMDAK EFEPKDVLPN GDGTYQGWIT LAVPPGEEQR YTCQVEHPGL DQPLIVIWEP SPSGTLV; Positive Samples: Mouse liver, Mouse heart; Cellular Location: Cell membrane, Single-pass type I membrane protein
The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin. 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.
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Protein Aliases: Hereditary hemochromatosis protein; hereditary hemochromatosis protein HLA-H; Hereditary hemochromatosis protein homolog; high Fe; HLA-H; MHC class I-like protein HFE
Gene Aliases: HFE; HFE1; HH; HLA-H; HLAH; MR2; MVCD7; TFQTL2