Table 1.

Genetic mutation causes iron metabolism disorders.

Protein	Gene	Mutation site	Downstream effect	Phenotype	Reference
HFE	HFE	C282Y	Iron concentration perception	Regulation hepcidin expression by binding TfR	[133]
TfR2	TFR2	Y250X	Tf, HFE receptor	C282Y homozygote modifier	[144]
HJV	HJV	G320V, etc.	Activate BMP-SMAD	Regulation hepcidin expression	[134]
MT2	TMPRSS6	A736V	Cleavage HJV	Determining protease activity, influences the hepcidin response to iron	[140]
FPN1	SLC40A1	C326S	Cellular iron effluxion	Resistance combine hepcidin	[ 145, 146]