Description of target: Hemojuvelin (HJV/RGMc/HFE2) is a membrane-bound and soluble protein in mammals. It is a member of the repulsive guidance molecule family of proteins. In humans, the hemojuvelin protein is encoded by the HFE2 gene. 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.;Species reactivity: Human;Application: ELISA;Assay info: ;Sensitivity: <15pg/ml
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Număr Catalog 247-OKBB00947CategorieAfaceri și industrie > Știință și laboratorFurnizorAviva Systems BiologyGentaurDimensiune96 WellsTipsingle
