TFR2

Transferrin receptor 2 ( TFR2 ) are called proteins in vertebrates, which are coded by the TFR2 gene and isoforms of each other. In man, there are three of these isoforms are designated TFR2α, TFR2β and TFR2γ and have various functions. TFR2α is a transmembrane receptor, and is responsible for the transport of ferritin in the mitochondria; it is expressed mainly in the liver and dopaminergic neurons in the substantia nigra, but also in spleen, lung, muscle, prostate, and PBMCs. At TFR2β transmembrane component is missing, it is to be found in small quantities in the cytosol of all cell types. Mutations in TFE2 gene responsible for type III of iron storage disease hemochromatosis.

TFR2 has a novel mitochondrial signal sequence is absent in the β - isoform. Transmembrane isoforms are therefore located in the mitochondrial membrane, and there provide the endocytosis of transferrin cytosolic.

Person responsible for the hemochromatosis mutation is located next to the variant Lys -172, which leads to a complete stop of TFR2β expression, even to those in the localization sequence of the gene. In this case TRF2α TFR2γ and are not able to exit the ER to the transcription.

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