- Human pathology

Home > A. Molecular pathology > SLC40A1


MIM.604653 2q32 UP:Q9NP59

Tuesday 5 August 2008

Defects in iron absorption and utilization lead to iron deficiency and overload disorders. Adult mammals absorb iron through the duodenum, whereas embryos obtain iron through placental transport.

Iron uptake from the intestinal lumen through the apical surface of the polarized duodenal enterocytes is mediated by the divalent metal transporter, DMT1 (MIM.600523).

SLC40A1 (ferropontin-1) exports iron across the basolateral surface to the circulation.

SLC40A1 (ferropontin-1) is involved in iron export from duodenal epithelial cell and also in transfer of iron between maternal and fetal circulation. It mediates iron efflux in the presence of a ferroxidase (hephaestin and/or ceruloplasmin).

Animal models

Ferroportin-1 (fpn1), encodes a multiple-transmembrane domain protein expressed in the yolk sac that was a candidate for the elusive iron transporter.

Zebrafish ferroportin-1 is required for the transport of iron from maternally-derived yolk stores to the circulation and functions as an iron exporter when expressed in Xenopus oocytes.


- germline mutations in SLC40A1-associated hemochromatosis (HFE4) (MIM.606069)