Abstract
Recently various new gene defects have been identified which explain some previously unknown causes of inherited microcytic anaemias. These defects are located in genes that encode for the cellular iron importing protein Divalent Metal Transporter 1 (DMT1), the iron exporting protein ferroportin, the mitochondrial enzyme glutaredoxin-5 and the hepatocyte membrane protein matriptase-2.
MeSH terms
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Anemia / genetics*
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Anemia / metabolism
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Cation Transport Proteins / genetics*
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Cation Transport Proteins / metabolism
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Genetic Diseases, Inborn / genetics*
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Genetic Diseases, Inborn / metabolism
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Glutaredoxins / genetics
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Glutaredoxins / metabolism
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Homeostasis / physiology
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Humans
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Iron / metabolism*
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Membrane Proteins / genetics
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Membrane Proteins / metabolism
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Serine Endopeptidases / genetics
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Serine Endopeptidases / metabolism
Substances
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Cation Transport Proteins
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Glutaredoxins
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Membrane Proteins
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metal transporting protein 1
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solute carrier family 11- (proton-coupled divalent metal ion transporters), member 2
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Iron
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Serine Endopeptidases
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matriptase 2