| Product Name | Anti-Phospho-HFE2 (Ser48) antibody |
|---|---|
| Antibody Type | Primary Antibodies |
| Immunogen | Synthetic peptide conjugated with KLH. |
| Modification | p-Ser48 |
| Clonality | Polyclonal |
|---|---|
| Isotype | IgG |
| Host Species | Rabbit |
| Concentration | 1mg/ml |
| Purification | Affinity purified |
| Gene Symbol | HJV |
|---|---|
| Gene Synonyms | JH HFE2 RGMC HFE2A |
| Gene Full Name | hemojuvelin BMP co-receptor |
| Gene Summary | 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] |
| Alternative Names | 2310035L15Rik 5230400G09Rik AI414844 AI789733 DL M Haemojuvelin HEMOCHROMATOSIS HEMOCHROMATOSIS DUE TO DEFECT IN HEMOJUVELIN HEMOCHROMATOSIS DUE TO DEFECT IN HEPCIDIN ANTIMICROBIAL PEPTIDE HEMOCHROMATOSIS JUVENILE Hemochromatosis type 2 (juvenile) Hemochromatosis type 2 Hemochromatosis type 2 protein Hemochromatosis type 2 protein homolog HEMOCHROMATOSIS TYPE 2A HEMOCHROMATOSIS TYPE 2B Hemojuvelin HFE 2 Hfe2 HFE2A HJV JH Juvenile MGC23953 OTTHUMP00000059680 Repulsive guidance molecule c RGM C RGM domain family member C RGMC |
| Molecular Weight(MW) | 45 kDa |
| Cellular Localization | Cell membrane,Membrane. |
| SwissProt ID | Q6ZVN8 |
|---|
| Form | Liquid |
|---|---|
| Storage Instructions | Shipped at 4°C. Store at +4°C short term (1-2 weeks). Store at -20°C long term. Avoid freeze / thaw cycle. |
| Storage Buffer | Purified antibody in PBS with 0.05% sodium azide,40% Glycerol. |
