disease:Defects in SLC11A2 are a cause of hypochromic microcytic anemia [MIM:206100]. The disease is characterized by an abnormal hemoglobin content in the erythrocytes which are reduced in size. It may be hereditary or acquired. Mutations in SLC11A2 are associated with progressive liver iron overload and normal to moderately elevated serum ferritin levels.,function:Macrophage-specific membrane transport. Important in metal transport, in particular iron.,similarity:Belongs to the NRAMP family.,tissue specificity:Expressed at low levels in all tissues analyzed.,
[Isoform 2]: Cell membrane ; Multi-pass membrane protein . Early endosome .; Endosome membrane ; Multi-pass membrane protein . Mitochondrion outer membrane ; Multi-pass membrane protein. Cell membrane ; Multi-pass membrane protein . Also found in extracellular vesicles different from exosomes. .
Ubiquitously expressed. Isoform 1 is highly expressed in brain. Isoform 2 is highly expressed in spleen, thymus and pancreas. Isoform 3 and isoform 4 are abundantly expressed in duodenum and kidney.
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