The hereditary hemochromatosis gene (HFE)
The hereditary hemochromatosis gene (HFE)
复制标题
遗传性血色素沉着症基因（HFE）
作者：
J. Feder
The iron overload disorder, hereditary hemochromatosis, is one of the most common genetic diseases of individuals of Northern European descent. The disorder is characterized by the progressive accumulation of dietary iron in the major organs of the body, which if not diagnosed, leads to numerous medical maladies and eventually death. The locus for this disorder was mapped by genetic linkage to the short arm of chromosome over twenty years ago, but it was not until 1996 that the gene for this disorder was cloned by an identity-by-descent positional cloning approach. The gene, called HFE, encodes a major histocompatibility complex (MHC) class I like protein that is mutated in approx 85% of all individuals known to have hereditary hemochromatosis (HH). Since the cloning of the HFE gene, considerable work has been carried out which has furthered our understanding of the genetics of this prevalent disorder. In addition, with the identification of the transferrin receptor as a protein capable of interacting with HFE we are now beginning to understand how a protein with the structural characteristics of an MHC class I molecule can influence cellular iron homeostasis.
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DOI：
10.1073/pnas.94.24.13198
发表时间：
1997-11-25
影响因子：
11.1
作者：
Parkkila, S;Waheed, A;Sly, WS
通讯作者：
Sly, WS
DOI：
10.1073/pnas.94.23.12384
发表时间：
1997-11-11
影响因子：
11.1
作者：
Waheed, A;Parkkila, S;Sly, WS
通讯作者：
Sly, WS
DOI：
--
发表时间：
1991-05
期刊：
The Journal of laboratory and clinical medicine
影响因子：
--
作者：
G. McLaren;M. Nathanson;Allan Jacobs;D. Trevett;W. Thomson
通讯作者：
G. McLaren;M. Nathanson;Allan Jacobs;D. Trevett;W. Thomson
血色素沉着病基因的定位：使用美国患者样本进行连锁不平衡分析。
DOI：
10.1006/bcmd.1996.0006
发表时间：
1996
期刊：
Blood cells, molecules & diseases.
影响因子：
--
作者：
Seese,NK;Venditti,CP;Chorney,KA;Gerhard,GS;Ma,J;Hudson,TJ;Phatak,PD;Chorney,MJ
通讯作者：
Chorney,MJ
HLA-H（遗传性血色素沉着病患者的缺陷蛋白）的免疫组织化学揭示了胃肠道中独特的表达模式。
DOI：
10.1073/pnas.94.6.2534
发表时间：
1997
影响因子：
11.1
作者：
Parkkila,S;Waheed,A;Britton,RS;Feder,JN;Tsuchihashi,Z;Schatzman,RC;Bacon,BR;Sly,WS
通讯作者：
Sly,WS