Defective SLC11A2 does not cotransport Fe2+, H+ from extracellular region to cytosol

Stable Identifier
R-HSA-5623558
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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The primary site for absorption of dietary iron is the duodenum. Ferrous iron (Fe2+) is taken up from the gut lumen across the apical membranes of enterocytes and released into the portal vein circulation across basolateral membranes. The human gene SLC11A2 encodes the divalent cation transporter DCT1 (NRAMP2, Natural resistance-associated macrophage protein 2). DCT1 resides on the apical membrane of enterocytes and mediates the uptake of many metal ions, particularly ferrous iron, into these cells. Defects in SLC11A2 can cause hypochromic microcytic anemia, with iron overload 1 (AHMIO1; MIM:206100), a blood disorder characterised by high serum iron, large hepatic iron deposition, abnormal haemoglobin content in erythrocytes which are reduced in size and absence of sideroblasts and stainable bone marrow iron store.

Mutations in SLC11A2 that cause AHMIO1 include E399D, 310delCTT, R416C, V114del and G212V (Mims et al. 2005, Iolascon et al. 2006, Beaumont et al. 2006).

Literature References
PubMed ID Title Journal Year
16160008 Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2)

Iolascon, A, d'Apolito, M, Servedio, V, Cimmino, F, Piga, A, Camaschella, C

Blood 2006
15459009 Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload

Mims, MP, Guan, Y, Pospisilova, D, Priwitzerova, M, Indrak, K, Ponka, P, Divoky, V, Prchal, JT

Blood 2005
16439678 Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload

Beaumont, C, Delaunay, J, Hetet, G, Grandchamp, B, de Montalembert, M, Tchernia, G

Blood 2006
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
iron ion transmembrane transporter activity of SLC11A2 mutants [plasma membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
hypochromic microcytic anemia 0050642
Authored
Reviewed
Created
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