Transferrin receptor protein 2
Transferrin receptor protein 2 gene is mapped on chromosome 7q22 that gives origin to 2 alternatively spliced transcripts, alpha-transcripts which encodes a transmembrane protein and beta-transcripts a shorter intracellular variant. It mediates cellular uptakes of transferrin-bound iron in non-iron dependent manner, thus implicated in iron metabolism, hepatocytes function and erythrocyte differentiation.
Transferrin receptor protein 2 helps sense and control iron storage levels in the body by calculating the height of another protein hepcidin that determines how much iron is riveted from the diet and out from the storage sites in the body. It is associated in the iron overload and tenders a tool for molecular diagnosis without HFE mutations.
Transferrin receptor protein 2 genemutations is associated in hereditary hemochromatosis a disorder of iron metabolism characterized by iron overload resulted from C282Y homozygosity in the HFE gene on chromosome 6p. Other mutations results in proteins that have a wrong sequence of protein building blocks to function normally which likely damage the capacity to regulate importation of iron into the cells. It is also drawn in to contributes the low level of hepcidin in the body which allows too much iron to be absorbed in the diet resulted in iron stored in the body tissues especially in the liver that leads to organ malfunction.
Gene name: TFR2
Protein name: Transferrin receptor protein 2