Aliases for HJV Gene
External Ids for HJV Gene
Previous HGNC Symbols for HJV 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. Two uORFs in the 5' UTR negatively regulate the expression and activity of the encoded protein. 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, Oct 2015]
GeneCards Summary for HJV Gene
HJV (Hemojuvelin BMP Co-Receptor) is a Protein Coding gene. Diseases associated with HJV include Hemochromatosis, Type 2A and Hemochromatosis Type 2. Among its related pathways are TGF-beta signaling pathway (KEGG) and Developmental Biology. An important paralog of this gene is RGMA.
UniProtKB/Swiss-Prot Summary for HJV Gene
Acts as a bone morphogenetic protein (BMP) coreceptor. Through enhancement of BMP signaling regulates hepcidin (HAMP) expression and regulates iron homeostasis.