HFE2

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]

hemochromatosis type 2 (juvenile)

BMP signaling pathway Source: Ensembl
Cellular iron ion homeostasis Source: Ensembl
Negative regulation of BMP signaling pathway Source: Ensembl
Negative regulation of transcription by RNA polymerase II Source: Ensembl
Positive regulation of transcription by RNA polymerase II Source: Ensembl

Cell membrane; Membrane

Helical: 405-425