Molecular weight (DA)
46kD
Immunogen
Synthesized peptide derived from human protein . at AA range: 270-350
Specificity
RGMC Polyclonal Antibody detects endogenous levels of protein.
Formulation
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Dilution rate
WB 1:500-2000 ELISA 1:5000-20000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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],
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
Protein name
Hemojuvelin (Hemochromatosis type 2 protein) (RGM domain family member C)
Fields
>>TGF-beta signaling pathway
Human protein sequence Database
Q6ZVN8
Mouse protein sequence database
Q7TQ32
Rat protein sequence database
Q8N7M5
Cellular localization
Cell membrane ; Lipid-anchor, GPI-anchor . Also released in the extracellular space. .
Tissue expression
Adult and fetal liver, heart, and skeletal muscle.
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