Supplier:
Aviva Systems Biology IncorporatedHFE2 antibody - N-terminal region (ARP53489_P050)
Prices direct from Aviva Systems Biology Incorporated
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SPECIFICATIONS
Size
50ug
Applications
WB
Hosts
Rabbit
Reactivities
Hum
Format
Lyophilized powder
Presku
ARP53489_P050
Target
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. 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.
Weight
21kDa
Gene Id
148738
Alternative Names
HFE2A; HJV; JH; MGC23953; RGMC
SUPPLIER INFO
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