ReviewGene2015
HFE gene: Structure, function, mutations, and associated iron abnormalities.
Review in Gene, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
74 citing papers in PubMed, 2 syntheses or guidelines pooled it, 154 citations in OpenAlex.
- Iron-Status Indicators and HFE Gene Polymorphisms in Individuals with Amyotrophic Lateral Sclerosis: An Umbrella Review of Meta-analyses and Systematic Reviews.Biological trace element research · 2025Pooled it
- [Chinese guidelines for the diagnosis and treatment of hereditary hemochromatosis].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2024Guideline
- Reduction of Skeletal Muscle Power in Adolescent Males Carrying H63D Mutation in theBioMed research international · 2017Trial
- Article
- Distribution of HFE Gene Variants in Patients Undergoing Genetic Testing in Türkiye: A Retrospective Analysis of 643 Cases.The Eurasian journal of medicine · 2026Article
- Haemochromatosis - a modern clinician's guide.Internal medicine journal · 2026Review
- A Decreasing North-to-South Gradient ofGenes · 2026Article
- Mean Corpuscular Volume inJournal of hematology · 2026Article
- Hereditary Hemochromatosis as a Potential Contributor to Ischemic Stroke: A Case Report.Cureus · 2026Article
- Comparisons of iron phenotypes and reports of menses, pregnancies, and live births in women withmedRxiv : the preprint server for health sciences · 2026Article
- Article
- The influences of genetic polymorphisms in three candidate genes on the athletic performance of Korean athletes.Genes & genomics · 2025Article
- Isolated Non-Progressive Hemidystonia in a Patient Homozygous for H63D Variant of Hereditary Hemochromatosis: A Case Report and Systematic Literature Review of Movement Disorders in Hereditary Hemochromatosis.Diagnostics (Basel, Switzerland) · 2025Article
- Serum Ferritin in Women WithEJHaem · 2025Article
- A Common Mutation in the Homeostatic Iron Regulatory Gene Alters Astrocyte Migration and Redox Profile.FASEB bioAdvances · 2025Article
- Haemochromatosis Genotypes and Incident Dementia in a Prospective Study of Older Adults.Neurology · 2025Article
- Factors related to mean corpuscular volume inEJHaem · 2025Article
- Article
- Molecular mechanisms and therapeutic strategies for ferroptosis and cuproptosis in ischemic stroke.Brain, behavior, & immunity - health · 2024Review
- Lack of Hfe and TfR2 in Macrophages Impairs Iron Metabolism in the Spleen and the Bone Marrow.International journal of molecular sciences · 2024Article
14 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
The hemochromatosis gene HFE was discovered in 1996, more than a century after clinical and pathologic manifestations of hemochromatosis were reported. Linked to the major histocompatibility complex (MHC) on chromosome 6p, HFE encodes the MHC class I-like protein HFE that binds beta-2 microglobulin. HFE influences iron absorption by modulating the expression of hepcidin, the main controller of iron metabolism. Common HFE mutations account for ~90% of hemochromatosis phenotypes in whites of western European descent. We review HFE mapping and cloning, structure, promoters and controllers, and coding region mutations, HFE protein structure, cell and tissue expression and function, mouse Hfe knockouts and knockins, and HFE mutations in other mammals with iron overload. We describe the pertinence of HFE and HFE to mechanisms of iron homeostasis, the origin and fixation of HFE polymorphisms in European and other populations, and the genetic and biochemical basis of HFE hemochromatosis and iron overload.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.