Hemojuvelin
The HJV gene encodes an important regulator of the iron metabolism, hemojuvelin. It functions upstream of hepcidin regulating its expression. Therefore mutations cause a similar phenotype of juvenile hemochromatosis. This time autosomal recessive.
Genetests:
Related Diseases:
References:
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Papanikolaou G et al. (2004) Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.
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Lenoir A et al. (2011) Iron-deficiency anemia from matriptase-2 inactivation is dependent on the presence of functional Bmp6.
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Huang FW et al. (2005) A mouse model of juvenile hemochromatosis.
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Niederkofler V et al. (2005) Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload.
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Huang FW et al. (2004) Identification of a novel mutation (C321X) in HJV.
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Lee PL et al. (2004) Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.
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Barton JC et al. () Juvenile hemochromatosis in the southeastern United States: a report of seven cases in two kinships.
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Andriopoulos B et al. (2009) BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism.
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Babitt JL et al. (2007) Modulation of bone morphogenetic protein signaling in vivo regulates systemic iron balance.
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Babitt JL et al. (2006) Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression.
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Brakensiek K et al. (2009) Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome.
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Murugan RC et al. (2008) Early age-of-onset iron overload and homozygosity for the novel hemojuvelin mutation HJV R54X (exon 3; c.160A-->T) in an African American male of West Indies descent.
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13. |
Gehrke SG et al. (2005) HJV gene mutations in European patients with juvenile hemochromatosis.
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14. |
Lee PL et al. (2004) Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis.
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15. |
Le Gac G et al. (2004) The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.
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16. |
Lanzara C et al. (2004) Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.
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Rivard SR et al. (2003) Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population.
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Orphanet article
Orphanet ID 123414
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NCBI article
NCBI 148738
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OMIM.ORG article
Omim 608374
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Wikipedia article
Wikipedia EN (Hemojuvelin)
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Update: Aug. 14, 2020