hemochromatosis type 2 (juvenile), Mouse, Polyclonal Antibody, Abnova
Mouse polyclonal antibody raised against a partial recombinant HFE2.
Manufacturer: Abnova Corporation H00148738A01
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. [provided by RefSeqSequence: GGCPPSQRLSRSERNRRGAITIDTARRLCKEGLPVEDAYFHSCVFDVLISGDPNFTVAAQAALEDARAFLPDLEKLHLFPS
|hemochromatosis type 2 (juvenile)|
|Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing.|
|ELISA, Western Blot|
|Mouse polyclonal antibody raised against a partial recombinant HFE2.|
|HFE2 (NP_973733, 93 a.a. ~ 173 a.a) partial recombinant protein with GST tag.|
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