Hereditary hemochromatosis (HH) is a group of inherited iron-overload disorders associated with pathogenic defects in the genes encoding hemochromatosis (HFE), hemojuvelin (HJV/HFE2), hepcidin (HAMP), transferrin receptor 2 (TfR2), and ferroportin (FPN1/SLC40A1) proteins, and the clinical features a …

2024年2月3日 · Here, the authors show that both the liver and the muscles secrete HFE2, a protein that promotes blood vessel integrity in healthy animals and in an animal model for multiple sclerosis.

Hemojuvelin (HJV), also known as repulsive guidance molecule C (RGMc) or hemochromatosis type 2 protein (HFE2), is a membrane-bound and soluble protein in mammals that is responsible for the iron overload condition known as juvenile hemochromatosis in humans, a severe form of hemochromatosis.

2003年11月30日 · We finely mapped the recombinant interval in families of Greek descent and identified multiple deleterious mutations in a transcription unit of previously unknown function (LOC148738), now called...

We describe two novel mutations in the HFE2 gene: a nonsense mutation (p.Arg63Ter) and a single-base deletion (p.Asp149ThrfsTer97) that generate a frameshift leading to a premature stop codon. Both mutations are clearly pathogenic.

2021年12月13日 · HFE hemochromatosis is the most common type of hemochromatosis, while non-HFE related hemochromatosis are rare cases. Here, we describe six new patients of non-HFE related HH from five different families. Two families (Family 1 and 2) have novel nonsense mutations in the HFE2 gene

2024年12月25日 · HFE (Homeostatic Iron Regulator) is a Protein Coding gene. Diseases associated with HFE include Hemochromatosis, Type 1 and Microvascular Complications Of Diabetes 7. Among its related pathways are Insulin receptor recycling and Transport of inorganic cations/anions and amino acids/oligopeptides.

We finely mapped the recombinant interval in families of Greek descent and identified multiple deleterious mutations in a transcription unit of previously unknown function (LOC148738), now called HFE2, whose protein product we call hemojuvelin.

HFE2, also known as RGM-C, is a member of the repulsive guidance molecule (RGM) family and is involved in iron metabolism. HFE2 may act as a bone morphogenetic protein (BMP) coreceptor. It is also thought to be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression.

2016年11月28日 · Pathogenic mutations in HFE2 and HAMP genes cause a juvenile form of hereditary hemochromatosis with loss-of-function or low level of hepcidin in liver, while the mutations identified in the HFE and TfR2 genes lead to iron deposition in the liver and other organs in adults.