产品名称
RGMC Rabbit Polyclonal Antibody
蛋白名称
Hemojuvelin (Hemochromatosis type 2 protein) (RGM domain family member C)
存储缓冲液
Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.
Human Swissprot No.
Q6ZVN8
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q6ZVN8/entry
Mouse Swissprot No.
Q7TQ32
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q7TQ32
Rat Swissprot Link
http://www.uniprot.org/uniprot/O54941Q8N7M5
免疫原
Synthesized peptide derived from human protein . at AA range: 270-350
特异性
RGMC Polyclonal Antibody detects endogenous levels of protein.
稀释度
WB 1:500-2000 ELISA 1:5000-20000
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
Adult and fetal liver, heart, and skeletal muscle.
细胞定位
Cell membrane ; Lipid-anchor, GPI-anchor . Also released in the extracellular space. .
功能
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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
