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HFE2 wt Allele

Known as: Hemochromatosis Type 2 (Juvenile) wt Allele, HFE2A, RGMC 
Human HFE2 wild-type allele is located in the vicinity of 1q21.1 and is approximately 4 kb in length. This allele, which encodes hemojuvelin protein… 
National Institutes of Health

Related topics

Related topics

4 relations
HomeostasisIonophore activityLigand BindingSignal Transduction

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis?
2019
2019
[Analysis of HFE and Non-HFE Mutations in a Tibet Cohort with Iron Overload].
OBJECTIVE The explore the molecular basis of iron-overload in Tibet nationality population of Tibet. METHODS The inpatients… 
2014
2014
Molecular determinants of vector specificity in Highlands J virus
2014
2014
Juvenile hemochromatosis associated with heterozygosity for novel hemojuvelin mutations and with unknown cofactors.
2014
2014
[Mutation analysis of the pathogenic gene in a Chinese family with hereditary hemochromatosis].
Hereditary hemochromatosis (HHC) is a rare autosomal recessive disorder. We recruited a consanguineous Chinese family including… 
2013
2013
How to Assess Causality of TMPRSS6 Mutations?
We have read with interest Guillem et al. (2012), which reports and characterizes new TMPRSS6 mutations in patients with iron… 
2012
2012
Distribution of Cortical Benzodiazepine Receptor Binding in Right-Handed Healthy Humans: A Voxel-Based Statistical Analysis of Iodine 123 Iomazenil SPECT with Partial Volume Correction
BACKGROUND AND PURPOSE: CBR imaging is highly susceptible to a PVE produced by morphologic changes in the brain related to aging… 
Highly Cited
2005
Highly Cited
2005
HJV gene mutations in European patients with juvenile hemochromatosis
A large variety of mutations within the genes encoding hepcidin (HAMP) and hemojuvelin (HJV) have been identified in patients… 
2004
2004
To the editor : Homozygosity for a novel nonsense mutation ( G 66 X ) of the HJV gene causes severe juvenile hemochromatosis with fatal cardiomyopathy
Juvenile hemochromatosis (JH) is a rare autosomal recessive disorder of iron metabolism. The early onset of severe iron overload… 
2004
2004
Retained heterodisomy for chromosome 12 in atypical lipomatous tumors: implications for ring chromosome formation
Atypical lipomatous tumor (ALT) is an intermediate malignant mesenchymal tumor that is characterized by supernumerary ring… 
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