HFE2
hemochromatosis type 2 (juvenile)
Synonymes:
HFE2A, HJV, JH, RGMC
Espèce(s):
Human HFE2 (148738), Mouse Hfe2 (69585), Rat Hfe2 (310681), domestic guinea pig Hfe2 (100733082), naked mole-rat Hfe2 (101705796), Zebrafish hfe2 (321932), dog HFE2 (475830), cow HFE2 (100335368), domestic cat HFE2 (101099991), sheep HFE2 (101114997)
ID UniProtKB:
ID du gène:
- Human(148738) Summary: 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 RefSeq, Jul 2008]
- Mouse(69585) hemochromatosis type 2 (juvenile) (human homolog)
- Rat(310681) hemochromatosis type 2 (juvenile)
- domestic guinea pig(100733082) hemochromatosis type 2 (juvenile)
- naked mole-rat(101705796) hemochromatosis type 2 (juvenile)
- Zebrafish(321932) hemochromatosis type 2
- dog(475830) hemochromatosis type 2 (juvenile)
- cow(100335368) hemochromatosis type 2 (juvenile)
- domestic cat(101099991) hemochromatosis type 2 (juvenile)
- sheep(101114997) hemochromatosis type 2 (juvenile)
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ELISA
Numéro du produit
Description
Espèce(s)
Antibodies
Numéro du produit
Description
Espèces réactives
Application
Anti-HFE2 antibody produced in mouse, purified immunoglobulin, buffered aqueous solution,
Espèces réactives
human
Application
western blot