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] |