Natural Resistance-Associated Macrophage Protein 2 (SLC11A2) ELISA Kit for Human

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

Chromosomal Location of Human Ortholog: 12q13

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

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

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

Disease: Anemia, Hypochromic Microcytic, With Iron Overload 1