HFE gene encodes to a transmembranar protein related to MHC I, also designated HLA-H, which has a ligand site for transferrin receptor. HFE gene mutations are associated with hereditary hemochromatose.
HFE Box 1.0 Typing kit targets two distinct polymorphisms in HFE gene, codons 63 and 282. Those mutations have effects on HFE protein stability leading to an excessive storage of iron on organs. HFE mutations interfere with transferrin recycling followed by hereditary hemochromatose and other pathologies (neoplasis, hepatic and neurodegenerative).
HFE Box 1.0 kit contains plates with dried primer mixes and PCR Master Mix for genetic typing of HFE H63D and C282Y.
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