NRAMP2 Antibody – Rabbit Polyclonal

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

Chromosomal Location of Human Ortholog: 12q13.12

Cellular Component: apical part of cell; apical plasma membrane; brush border membrane; cytoplasm; cytoplasmic vesicle; early endosome; integral to plasma membrane; late endosome membrane; lysosomal membrane; membrane; nucleus; perinuclear region of cytoplasm; plasma membrane; recycling endosome; vacuole

Molecular Function: cadmium ion binding; cadmium ion transmembrane transporter activity; copper ion transmembrane transporter activity; ferrous iron transmembrane transporter activity; ferrous iron uptake transmembrane transporter activity; iron ion transmembrane transporter activity; lead ion transmembrane transporter activity; manganese ion transmembrane transporter activity; protein binding; solute:hydrogen symporter activity; transition metal ion transmembrane transporter activity

Biological Process: cellular iron ion homeostasis; copper ion transport; ferrous iron transport; lead ion transport; manganese ion transport; response to iron ion

Disease: Anemia, Hypochromic Microcytic, With Iron Overload 1