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This gene is a member of the transferrin receptor-like family and encodes a single-pass type II membrane protein with a protease associated (PA) domain, an M28 peptidase domain and a transferrin receptor-like dimerization domain. This protein mediates cellular uptake of transferrin-bound iron and mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: MGC126368; TfR2; Transferrin receptor protein 2
基因别名: HFE3; TFR2; TFRC2; Trfr2
UniProt ID: (Human) Q9UP52, (Rat) B2GUY2, (Mouse) Q99MQ9
Entrez Gene ID: (Human) 7036, (Rat) 288562, (Mouse) 50765