Muckenthaler Martina U
UNIVERSITY OF HEIDELBERG; MOLECULAR MEDICINE PARTNERSHIP UNIT.
Blood. 2014 Aug 21;124(8):1212-3. doi: 10.1182/blood-2014-07-581744.
In this issue of , Wu et al describe the molecular function of , the gene most commonly mutated in hereditary hemochromatosis (HH). HH is the most frequent genetic disorder of the Western world. The authors show that HFE prevents ubiquitination and proteasomal degradation of bone-morphogenetic protein (BMP) receptor type I (Alk3), thereby increasing expression of this receptor on the cell surface of hepatocytes. As a consequence, transcription of the iron-hormone hepcidin is activated.
在本期的[杂志名称]中，吴等人描述了[基因名称]的分子功能，该基因是遗传性血色素沉着症（HH）中最常发生突变的基因。HH是西方世界最常见的遗传性疾病。作者表明，HFE可防止骨形态发生蛋白（BMP）I型受体（Alk3）的泛素化和蛋白酶体降解，从而增加该受体在肝细胞表面的表达。因此，铁调节激素铁调素的转录被激活。
