Background：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.
仕様
Synonyms：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
Host：Rabbit
Reactivity：Human,Rat
Applications：WB
Concentration：1mg/ml
Immunogen：Recombinant protein of human HFE2
Purification Method：Affinity purification
Clonality：Polyclonal
Conjugation：Unconjugated
Buffer：Buffer： PBS with 0.02％ sodium azide, 50％ glycerol, pH7.3.
Dilution：WB1：500 - 1：2000
Gene_ID（human）：148738
Swissprot：Q6ZVN8
Isotype：IgG
Research Areas：Cancer, Metabolism, Developmental biology, Neuroscience, Signal transduction, Stem cells
