What is the function of ferroportin?

What is the function of ferroportin?

Ferroportin (Fpn) emerges as a critical transporter in terms of iron acquisition and transfer of iron between cell types, as it is the only known transporter that exports elemental iron from cells. Fpn is essential to distribute iron between tissues and for iron absorption into the organism.

What does the HFE gene do?

The HFE gene provides instructions for producing a protein that is located on the surface of cells, primarily liver and intestinal cells. The HFE protein is also found on some immune system cells. The HFE protein interacts with other proteins on the cell surface to detect the amount of iron in the body.

What causes non hereditary hemochromatosis?

The four main types of non-HFE HH are caused by mutations in the hemojuvelin, hepcidin, transferrin receptor 2 and ferroportin genes. Juvenile haemochromatosis is an autosomal recessive disorder and can be caused by mutations in either hemojuvelin or hepcidin.

What is the difference between ferroportin and transferrin?

Ferroportin is the major iron export protein located on the cell surface of enterocytes, macrophages and hepatocytes, the main cells capable of releasing iron into plasma for transport by transferrin. The exit of iron from these macrophages is controlled by ferroportin.

Which cells ferroportin?

Early work confirmed that ferroportin is highly expressed by cells and tissues associated with iron transport: duodenal enterocytes, liver Kupffer cells and splenic red pulp macrophages, periportal hepatocytes, and the placental syncytiotrophoblast (Figure 1).

What chromosome is the HFE gene?

In 1996, HFE, the gene for HHC, was mapped on the short arm of chromosome 6 (6p21. 3). Two of the 37 allelic variants of HFE described to date (C282Y and H63D) are significantly correlated with HHC. Homozygosity for the C282Y mutation was found in 52-100% of previous studies on clinically diagnosed probands.

What type of protein is HFE?

The membrane protein HFE is similar to MHC class I-type proteins and binds beta-2 microglobulin (β2M) [13]. HFE binds transferrin receptor (TFRC) in its extracellular α1-α2 domain [14,15].

What is the SLC40A1 gene used for?

The SLC40A1 gene encodes for the solute carrier family 40 member 1 protein. The solute carrier family 40 member 1 protein is involved in iron export from the duodenal epithelial cells. Bacon, BR, et al. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases.

What does slc11a3 stand for?

“Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3).” Cited for: VARIANT HFE4 VAL-162 DEL. “Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.”

What are the effects of the SLC40A1 deletion in osteoclasts?

The Slc40a1 deletion mildly increased iron levels in both precursor and mature osteoclasts, and its loss in precursors, but not in mature cells, increased osteoclastogenesis and decreased bone mass in vivo Of note, these phenotypes were more pronounced in female than in male mice.

What is the slc11a3 gene deletion?

“Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3).” Cited for: VARIANT HFE4 VAL-162 DEL.