SLC11A2 Antibody – Mouse Monoclonal

This gene encodes a member of the solute carrier family 11 protein family. The product of this gene transports divalent metals and is involved in iron absorption. Mutations in this gene are associated with hypochromic microcytic anemia with iron overload. A related solute carrier family 11 protein gene is located on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010]

SLC11A2: 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. Defects in SLC11A2 are a cause of hypochromic microcytic anemia (HCMA). 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. Belongs to the NRAMP family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Transporter; Membrane protein, multi-pass; Transporter, SLC family; Membrane protein, integral

Chromosomal Location of Human Ortholog: 12q13

Cellular Component: cell surface; late endosome membrane; lysosome; lysosomal membrane; integral to plasma membrane; early endosome; trans-Golgi network; recycling endosome; mitochondrial outer membrane; membrane; apical part of cell; perinuclear region of cytoplasm; cytoplasm; late endosome; apical plasma membrane; plasma membrane; vacuole; cytoplasmic vesicle; nucleus; brush border

Molecular Function: cadmium ion transmembrane transporter activity; nickel ion transmembrane transporter activity; inorganic cation transmembrane transporter activity; zinc ion binding; manganese ion transmembrane transporter activity; hydrogen ion transmembrane transporter activity; cadmium ion binding; vanadium ion transmembrane transporter activity; nickel ion binding; copper ion transmembrane transporter activity; protein binding; copper ion binding; iron ion binding; manganese ion binding; zinc ion transmembrane transporter activity; calcium ion transmembrane transporter activity; cobalt ion transmembrane transporter activity; lead ion transmembrane transporter activity; ferrous iron transmembrane transporter activity; cobalt ion binding; solute:hydrogen symporter activity

Biological Process: lead ion transport; caspase activation; erythrocyte development; cellular copper ion homeostasis; cellular iron ion homeostasis; dendrite morphogenesis; manganese ion transport; copper ion transport; response to manganese ion; nickel ion transport; learning and/or memory; response to cadmium ion; detection of oxygen; vanadium ion transport; ferrous iron transport; response to lead ion; response to hypoxia; response to iron ion; cobalt ion transport; transmembrane transport; heme biosynthetic process

Disease: Anemia, Hypochromic Microcytic, With Iron Overload 1