Invitrogen™ HFE2 Polyclonal Antibody

Description

Immunogen sequence: SSPMALGANA TATRKLTIIF KNMQECIDQK VYQAEVDNLP VAFEDGSING GDRPGGSSLS IQTANPGNHV EIQAAYIGTT IIIRQTAGQL SFSIKVAEDV AMAFSAEQDL QLCVGGCPPS QRLSRSERNR RGAITIDTAR RLCKEGLPVE DAYFHSCVFD VLISGDPNFT VAAQAALEDA RAFLPDLEKL HLFPSD Positive Samples: HeLa, PC-3; Cellular Location: Cell membrane, GPI-anchor, Lipid-anchor.

HFE2 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.