产品概述：Purified recombinant protein of Human hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, Gln36-Leu263, with N-terminal His tag, expressed in E.coli, 50ug

蛋白长度：A DNA sequence encoding the region(Gln36-Leu263) of HFE2

表达系统：E. coli

种属：Human

标签类型：N-His

分子量：24.1 kDa

通用名：HJV

总结：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]

形式：Liquid

浓度：>50 ug/mL as determined by microplate BCA method

纯度：> 80% as determined by SDS-PAGE and Coomassie blue staining

储存溶液：50mM Tris, pH8.0, 8M Urea

别名：HFE2; HFE2A; JH; RGMC