Ontology highlight
ABSTRACT:
SUBMITTER: Barton JC
PROVIDER: S-EPMC6660136 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Barton James C JC Edwards Corwin Q CQ Acton Ronald T RT
Gene 20151009 2
The hemochromatosis gene HFE was discovered in 1996, more than a century after clinical and pathologic manifestations of hemochromatosis were reported. Linked to the major histocompatibility complex (MHC) on chromosome 6p, HFE encodes the MHC class I-like protein HFE that binds beta-2 microglobulin. HFE influences iron absorption by modulating the expression of hepcidin, the main controller of iron metabolism. Common HFE mutations account for ~90% of hemochromatosis phenotypes in whites of weste ...[more]