HJV, hemojuvelin BMP co-receptor

HJV, hemojuvelin BMP co-receptor

• 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]

• Gene Synonyms (HFE2, HFE2A, JH, RGMC, hemojuvelin, RGM domain family member C, haemojuvelin, hemochromatosis type 2 (juvenile), hemochromatosis type 2 protein, hemojuvelin BMP coreceptor, repulsive guidance molecule c,)
• NCBI Gene ID: 148738
• Species: Homo sapiens (Human)
• UNIPROT ID#>>A0A024R4F5
  UNIPROT ID#>>Q6ZVN8
  UNIPROT ID#>>A8K466
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

hemojuvelin BMP co-receptor interacts with:

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.