RGMC Polyclonal Antibody - RA34452

RGMC Polyclonal Antibody Sizes: 50μL, 100μL Catalogue Numbers: RA34452-50, RA34452-100 Citations, Manuals and MSDS Available upon request. Background: 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], Condition: Liquid in PBS containing 50% glycerol, and 0.02% sodium azide. Storage Instructions: -20°C/1 year Recommended dilutions: WB 1:500-2000 ELISA 1:5000-20000 Applications: WB; ELISA Species Cross-Reactivity: Human; Rat; Mouse GeneID (Human): 148738 Protein MW (KDa): 46 SWISS: Q6ZVN8 Source: Rabbit Research Use Only