RGMC rabbit pAb

SKU: ES11203

Size: 100μL

Source:Rabbit

Applications:WB;ELISA

Reactivity:Human;Rat;Mouse

Dilution:WB 1:500-2000 ELISA 1:5000-20000

Immunogen:Synthesized peptide derived from human protein . at AA range: 270-350

Storage_stability:-20°C/1 year

Clonality:Polyclonal

Isotype:IgG

Concentration:1 mg/ml

Observed_band(KD):46kD

Human_gene_id:148738

Human_swiss_prot_no:Q6ZVN8

Subcellular_location:Cell membrane ; Lipid-anchor, GPI-anchor . Also released in the extracellular space. .

Other_name:

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],