靶标：
Hjv
产品别名：
2310035L15Rik； 5230400G09Rik； AI414844； AI789733； DL-M； Hfe2； Rgmc； hemojuvelin； Hjv； hemojuvelin BMP co-receptor； hemojuvelin BMP co-receptor； hemojuvelin； RGM domain family member C； hemochromatosis type 2 (juvenile) (human homolog)； hemochromatosis type 2 protein homolog； hemojuvelin BMP coreceptor； repulsive guidance molecule C； 反义导向分子RGMC； 血幼素(HJV)；
背景信息：
hemochromatosis type 2 (juvenile)(HFE2) Homo sapiens The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Two uORFs in the 5' UTR negatively regulate the expression and activity of the encoded protein. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Oct 2015],
