DISEASES

Disease-gene associations mined from literature

Literature associating FTH1 and hemochromatosis type 1

FTH1 [ENSP00000273550]

Cell proliferation-inducing gene 15 protein; Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity); Belongs to the ferritin family.

Synonyms:  FTH1,  FTH1p,  hFTH1,  A0A024R525,  A9JQE1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM