GENE

LOCATION

PROTEIN

PATHWAY

DISEASE

REF.

HAMP

19q13.12

HEPCIDIN

IT REDUCES IRON CELL UPTAKE BY INIBITING FERROPORTIN

HH type 2B

[9] [11] [86] [87]

HFE2

1q21.1

EMOJUVELIN

IT IS A POSITIVE MODULATOR OF HEPCIDIN VIA BMP2 - 4 SMAD PATWHAY

HH type 2A, (JH)

[17] [88] [89]

HFE

6p22.2

HFE (Homeostatic iron regulator)

IT ALLOWS THE UPTAKE OF TRANSFERRIN-BOUND IRON BY CELLS

HH

[89] [90]

TFR2

7q.22.1

TRANSFERRIN RECEPTOR

IT ALLOWS THE UPTAKE OF TRANSFERRIN-BOUND IRON BY CELLS

HH type 3

[88] [89]

TF

3q22.1

TRANSFERRIN

IT DELIVERS IRON TO CELLS BY BYNDING

FE+++

ATRANSFERRINEMIA, CONGENITAL

ATRANSFERRINEMIA

[91]

CP

3q24-q25.1

CERULOPLASMINA

(FERROXIDASE)

IT ALLOWS PEROXIDATION OF FE(II)TRANSFERRIN TO FE(III) BY BINDING TRANSFERRIN

ACERULOPLASMINEMIA

[26] [27] [92]

TMPRSS6

22q12.3

MATRIPTASE II

IT IS A

NEGATIVE EMOJUVELIN

REGULATOR

THROUGH THE CLEAVAGE OF CELL SURFACE EMOJUVELIN

IRIDA,

MICROCYTIC ANEMIA

[16] [19] [20] [21] [22]

SLC40A1

2q32.2

FERROPORTIN

IT MEDIATES IRON EFFLUX FROM CELLS INTO THE BLOOD

HH type 1,

HH type 4

IPERFERRITINEMIA

[28] [29]