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This antibody is predicted to react with mouse and rat based on sequence homology.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: DL M; haemojuvelin; HEMOCHROMATOSIS; Hemochromatosis type 2 protein; Hemojuvelin; Hemojuvelin BMP coreceptor; HFE 2; MGC23953; OTTHUMP00000059680; repulsive guidance molecule c; RGM C; RGM domain family member C
Gene Aliases: HFE2; HFE2A; HJV; JH; RGMC
UniProt ID: (Human) Q6ZVN8
Entrez Gene ID: (Human) 148738
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