该基因编码的蛋白是一种膜蛋白，与mhcⅠ类蛋白相似，与beta2微球蛋白（beta2m）相关。认为该蛋白通过调节转铁蛋白受体与转铁蛋白的相互作用来调节铁的吸收。铁储存障碍，遗传性血色素沉着症，是一种隐性遗传疾病，是由该基因缺陷引起的。至少有9个选择性剪接的变异已经被描述为这个基因。已发现其他变体，但尚未确定其全长性质。[由RefSeq提供，2008年7月]
The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]