HJV, Official Symbol HJVprovided by HGNC Official Full Name hemojuvelin BMP co-receptorprovided by HGNC Primary source HGNC:HGNC:4887 See related Ensembl:ENSG00000168509 MIM:608374; AllianceGenome:HGNC:4887 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as JH; HFE2; RGMC; HFE2A Summary 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] Expression Biased expression in liver (RPKM 40.4), heart (RPKM 17.1) and 2 other tissues See more Orthologs mouse all