hfe 蛋白与遗传性血色病 - polyu ira.pdfVIP

·408 · 　Chinese Journal of Pathophysiology　2006, 22(2):408-411 [ ] 　1000-4718(2006)02-0408-04 HFE ＊ 1, 2, 3 3 1 1■ 钱忠明 , 　康友敏, 　常彦忠, 　柯　亚 1 2 (, , ; 3 , 518060; , 050016) HFE protein and hereditary haemochromatosis 1, 2, 3 3 1 1■ QIAN Zhong-ming , KANG You-min , CHANG Yan-zhong , KE Ya 1 (Iron Metabolism Laboratory, Department of Applied Biology and Chemical Technology, HongKong Ploytechnic 2 University, Ko loon, HongKong, China; NationalKey Laboratory of Chinese Medicine and Molecular 3 Pharmacology, Shenzhen 518060, China; Institue of Neurobiology Neuropharmacology, Hebei Normal University, Shijiazhuang 050016, China) 　　【A Review】　Hereditary haemo hromatosis is an iron-overload disease, whi h mainly indu ed by the hemo hromatosis gene (HFE)mutation.Proximately 10% the whites have mutations in the HFE gene that has been identified in points of C282Y, H63D and S65C.About 85% of HH ases are aused by a mutation of amino a id 282 (C282Y)in the HFE gene.HFE protein is not on- ly involved in regulation of transferrin-bound iron uptake but also a key omponent in the regulation of intestinal iron absorption.In addition, other gene mutation su h as transferrin re eptor 2 also an ause HH disease. 　　[ ] 　;, HFE;;, 　　[ KEY WORDS] 　Hereditary haemo hromatosis;Genes, HFE;Iron metabolism;Re eptors, transferrin 　　[ ] 　R363　　　　　[ ] 　A