DISEASES

Disease-gene associations mined from literature

Literature associating SLC11A2 and hemochromatosis type 1

SLC11A2 [ENSP00000378364]

Solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2; Important in metal transport, in particular iron. Can also transport manganese, cobalt, cadmium, nickel, vanadium and lead. Involved in apical iron uptake into duodenal enterocytes. Involved in iron transport from acidified endosomes into the cytoplasm of erythroid precursor cells. May play an important role in hepatic iron accumulation and tissue iron distribution. May serve to import iron into the mitochondria; Belongs to the NRAMP family.

Synonyms:  SLC11A2,  SLC11A2p,  hSLC11A2,  B3KY44,  F8VR36 ...

Linkouts:  STRING  Pharos  UniProt  OMIM