The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
Abstract
Haemochromatosis is a common recessive disorder characterized by progressive iron overload, which may lead to severe clinical complications. Most patients are homozygous for the C282Y mutation in HFE on 6p (refs 1-5). A locus for juvenile haemochromatosis (HFE2) maps to 1q (ref. 7). Here we report a new locus (HFE3) on 7q22 and show that a homozygous nonsense mutation in the gene encoding transferrin receptor-2 (TFR2) is found in people with haemochromatosis that maps to HFE3.
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Liver TFR2 upregulates hepcidin and TFR2 mutations cause hemochromatosis.
“Liver TFR2 upregulates hepcidin and TFR2 mutations cause hemochromato-sis.69”
From Iron metabolism and iron disorders revisited in the hepcidin era (2020) · cites this paper as [69]
TfR2 is primarily expressed in hepatocytes and in the iron-absorbing cells of the intestine and duodenum.
“TfR2 is primarily expressed in hepatocytes and in the iron-absorbing cells of the intestine and duodenum (35).”
From Intracellular iron transport and storage: from molecular mechanisms to health implications (2008) · cites this paper as [35]
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- Authors
- Camaschella, C., Roetto, A., Calì, A., De Gobbi, M., Garozzo, G., Carella, M., Majorano, N., Totaro, A., & Gasparini, P.
- Affiliations
- University of Turin (IT)
- Corresponding author
- Gasparini, Paolo
- Venue
- Nature Genetics
- Published
- 2000-05
- Volume
- 25
- Issue
- 1
- Pages
- 14-15
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2025158365
- Cited by
- 803
- References
- 16
- Citations by year
- 2026: 5 · 2025: 4 · 2024: 5 · 2023: 13 · 2022: 13 · 2021: 21 · 2020: 20 · 2019: 13 · 2018: 24 · 2017: 26 · 2016: 18 · 2015: 22 · 2014: 20 · 2013: 26 · 2012: 30
- FWCI
- 31.18
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion)
- Topics
- Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
- Keywords
- hemochromatosis, transferrin receptor 2, nonsense mutation, iron overload, gene mapping, recessive disorders
- MeSH terms
- Animals, Chromosome Mapping, Chromosomes, Human, Pair 7, Female, Hemochromatosis, Humans, Male, Mutation, Pedigree, Receptors, Transferrin, Codon, Nonsense, Mice
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