Difference between revisions of "Hemochromatosis 2011"
From Bioinformatikpedia
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== HEF-Gen == |
== HEF-Gen == |
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[[Image:Protein_HFE_PDB_1a6z.png|thumb|Source: http://www.pdb.org/pdb/explore/explore.do?structureId=1A6Z]] |
[[Image:Protein_HFE_PDB_1a6z.png|thumb|Source: http://www.pdb.org/pdb/explore/explore.do?structureId=1A6Z]] |
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| − | The HFE-Gen alleviate the binding of |
+ | The HFE-Gen alleviate the binding of [http://en.wikipedia.org/wiki/Transferrin 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 |
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| + | overload. |
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=== Mutation === |
=== Mutation === |
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Revision as of 10:53, 15 May 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
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.
