ITN2257
ITN2257
- Catalog: ITN2257
- Gene/Protein: HFE2 HJV RGMC
- Product Description: Immunotag™ RGMC Polyclonal Antibody
385.0000
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Antibody Specification | |
Datasheet | |
Target Protein | RGMC |
Clonality | Polyclonal |
Storage/Stability | -20°C/1 year |
Application | WB,ELISA |
Recommended Dilution | WB 1:500-2000 ELISA 1:5000-20000 |
Concentration | 1 mg/ml |
Reactive Species | Human,Rat,Mouse |
Host Species | Rabbit |
Immunogen | Synthesized peptide derived from human protein, at AA range: 270-350 |
Specificity | RGMC Polyclonal Antibody detects endogenous levels of protein. |
Purification | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen |
Form | Liquid in PBS containing 50% glycerol, and 0.02% sodium azide. |
Gene Name | HFE2 HJV RGMC |
Accession No. | Q6ZVN8 Q7TQ32 Q8N7M5 |
Description | 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], |
Protein Expression | Liver,PNS,Skeletal muscle, |
Subcellular Localization | extracellular space,plasma membrane,cell surface,integral component of membrane,anchored component of membrane,BMP receptor complex,plasma membrane protein complex,HFE-transferrin receptor complex, |
Protein Function | disease:Defects in HFE2 are the cause of hemochromatosis type 2A (HFE2A) [MIM:602390]; 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. It is the consequence of intestinal iron hyperabsorption associated with macrophages that do not load iron. Deleterious mutations of HFE2 reduced HAMP (hepcidin) levels despite iron overload, which normally induces HAMP expression.,function:Involved in iron metabolism. May be a component of the signaling pathway which activates hepcidin (HAMP). May cooperate with hepcidin to restrict iron absorption in the gut. May act as a modulator of hepcidin expression, as deleterious mutations are associated with reduced hepcidin level. Could represent the cellular receptor for hepcidin.,similarity:Belongs to the repulsive guidance molecule (RGM) family.,tissue specificity:Adult and fetal liver, heart, and skeletal muscle., |
Usage | For Research Use Only! Not for diagnostic or therapeutic procedures. |