Gene: HJV

Alternate names for this Gene: HFE2|HFE2A|JH|RGMC

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q21.1

Description of this Gene: hemojuvelin BMP co-receptor

Type of Gene: protein-coding

rs10218795 in HJV gene and Coronary heart disease PMID 21626137 2011 Two-marker association tests yield new disease associations for coronary artery disease and hypertension.

rs121434374 in HJV gene and HEMOCHROMATOSIS, TYPE 2A PMID 14647275 2004 Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.

PMID 14982873 2004 Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.

PMID 15461631 2004 Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis.

PMID 14982867 2004 Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.

PMID 15610558 2004 Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population.

PMID 19796184 2009 Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome.

PMID 17339196 2007 Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl.

PMID 15811010 2005 HJV gene mutations in European patients with juvenile hemochromatosis.

rs74315323 in HJV gene and Juvenile hemochromatosis PMID 14982873 2004 Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.

PMID 14647275 2004 Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.

PMID 22408404 2012 The evaluation of the HJV p.Gly320Val mutation must be the molecular test of choice in suspected patients with juvenile hemochromatosis with less than 30 years and cardiac or endocrine manifestations.

PMID 14982867 2004 Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.

PMID 17339196 2007 Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl.