<unk>  The<unk> <unk>  is a single-nucleotide polymorphism in the<unk> <unk>  (c.187C>G, rs1799945), which results in the substitution of an aspartic acid for a histidine at amino acid position 63 of the<unk>  protein (p.His63Asp).<unk>  participates in the regulation of iron absorption. Homozygous<unk>  variant can occasionally be the cause of hemochromatosis. It is also associated with the occurrence of other conditions like hypotransferrinemia, liver dysfunction, bone and joint issues, diabetes mellitus, heart disease, hormone imbalances, porphyria cutanea tarda (PCT), infertility, stroke, neurodegenerative and brain damages, some cancers, venous and peripheral artery disease.
HFE H63D gene mutation
PMM2 deficiency
DOCK8 deficiency
ZAP70 deficiency
Apolipoprotein B deficiency
NGLY1 deficiency
Purine nucleoside phosphorylase deficiency
Janus kinase 3 deficiency