遗传性血色素沉着症基因（HFE）、主要组织相容性复合体（MHC）与血色素沉着症：MHC I类分子扩展功能的范例
HFE, the MHC and hemochromatosis: paradigm for an extended function for MHC class I.
作者信息
Cardoso C S, de Sousa M
机构信息
Molecular Immunology, Institute for Molecular and Cell Biology, Oporto, Portugal Molecular Pathology and Immunology, Instituto de Ciências Biomédicas Abel Salazar, OPorto, Portugal.
出版信息
Tissue Antigens. 2003 Apr;61(4):263-75. doi: 10.1034/j.1399-0039.2003.00065.x.
HFE was discovered as the hereditary hemochromatosis (HH) gene. It is located on chromosome 6 (6p21.3), 4Mb telomeric to the HLA-A locus, and its product has a structure similar to MHC class I molecules. HFE encodes two frequent mutations: C282Y and H63D. One of these (C282Y) is present in a large proportion of Caucasian HH patients. HFE has a tissue distribution compatible with a role in iron absorption (intestine), recycling (macrophages) and transport to the fetus (placenta).
HFE基因作为遗传性血色素沉着症（HH）基因被发现。它位于6号染色体（6p21.3）上，距离HLA - A基因座端粒4Mb处，其产物具有与MHC I类分子相似的结构。HFE编码两种常见突变：C282Y和H63D。其中之一（C282Y）在大部分高加索HH患者中存在。HFE的组织分布情况与它在铁吸收（肠道）、再循环（巨噬细胞）以及向胎儿转运（胎盘）过程中所起的作用相契合。
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