Aliases for HFE2 Gene
External Ids for HFE2 Gene
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]
GeneCards Summary for HFE2 Gene
HFE2 (Hemochromatosis Type 2 (Juvenile)) is a Protein Coding gene. Diseases associated with HFE2 include hemochromatosis, type 2a and hemochromatosis type 2. Among its related pathways are L1CAM interactions and L1CAM interactions. GO annotations related to this gene include coreceptor activity. An important paralog of this gene is RGMA.
UniProtKB/Swiss-Prot for HFE2 Gene
Acts as a bone morphogenetic protein (BMP) coreceptor. Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis.