rs1800562
rs1800562 is the HFE Cys282Tyr (C282Y) missense variant, the most common cause of hereditary hemochromatosis. The substitution disrupts a disulfide bond in the HFE protein's alpha-3 domain, blocking its interaction with beta-2-microglobulin and preventing normal cell-surface expression, which impairs the protein's role in regulating iron absorption. Homozygosity for this allele is a risk factor, with incomplete penetrance, for iron-overload disease and is assessed alongside HFE H63D (rs1799945).
Traits rs1800562 reads
Gene
Reference databases
How Biome reads this
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