Hemochromatosis 2011

Hemochromatosis is an autosomal recessiv genetic disorder caused by a mutation of the HFE-Gen

Phenotype

Hemochromatosis causes different symptoms like skin discoloration and liver cirrhosis.

HEF-Gen

Source: http://www.pdb.org/pdb/explore/explore.do?structureId=1A6Z

The HFE-Gen alleviate the binding of transferrin which is the carrier protein for iron in the blood cyclus. With a mutated HFE-Gen, the intestines interpret a strong transferrin signal as an deficient in iron. Therefore the cells start to import iron, which leads to an iron overload.