Table 2. The hemochromatosis genes and... | American Society of Hematology

Table 2.

The hemochromatosis genes and proteins

Gene	Protein	Protein class	Expression	Interaction	Disease type by OMIM
HFE	HFE	HLA class I, atypical	Ubiquitous	TFR1	1
TFR2	TFR2	TFR family	Hepatocytes	Transferrin	3
HAMP	Hepcidin	Antimicrobial peptide	Hepatocytes, skeletal muscle, heart	Ferroportin	2b
HJV	Hemojuvelin	RGM homologue	Heart, liver, skeletal muscle	Neogenin*	2a
SLC40A1	Ferroportin	Iron exporter	Ubiquitous	Hepcidin	4†

Gene	Protein	Protein class	Expression	Interaction	Disease type by OMIM
HFE	HFE	HLA class I, atypical	Ubiquitous	TFR1	1
TFR2	TFR2	TFR family	Hepatocytes	Transferrin	3
HAMP	Hepcidin	Antimicrobial peptide	Hepatocytes, skeletal muscle, heart	Ferroportin	2b
HJV	Hemojuvelin	RGM homologue	Heart, liver, skeletal muscle	Neogenin*	2a
SLC40A1	Ferroportin	Iron exporter	Ubiquitous	Hepcidin	4†

OMIM indicates Online Mendelian Inheritance in Man¹⁰¹; HJV, hemojuvelin-encoding gene; SLC40A1, solute carrier family 40, member 1; HLA, human leukocyte antigen; TFR1, transferrin receptor 1; RGM, repulsive guidance molecule.

See “Note added in proof.”

†

Also called ferroportin disease.

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