ArticleNature communications2016
The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6.
Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 44 citations in OpenAlex.
- Oxidation of Uroporphyrinogens During Heme Synthesis: Role of Iron, Susceptibility and Consequences.Biomolecules · 2026Review
- Exploiting porphyrin metabolism to inhibit angiogenesis.Angiogenesis · 2026Article
- Porphyrias: Pathophysiology and clinical management recommendations for hepatologists.Hepatology communications · 2025Review
- Haematometabolism rewiring in atherosclerotic cardiovascular disease.Nature reviews. Cardiology · 2025Review
- The role of ATP-binding Cassette subfamily B member 6 in the inner ear.Nature communications · 2024Article
- Cadmium transport by mammalian ATP-binding cassette transporters.Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine · 2024Review
- Protoporphyrin IX-induced phototoxicity: Mechanisms and therapeutics.Pharmacology & therapeutics · 2023Review
- Retrograde signaling in plants: A critical review focusing on the GUN pathway and beyond.Plant communications · 2023Review
- Iron Metabolism in the Disorders of Heme Biosynthesis.Metabolites · 2022Review
- A Recap of Heme Metabolism towards Understanding Protoporphyrin IX Selectivity in Cancer Cells.International journal of molecular sciences · 2022Review
- Deferasirox-induced robust and dose-dependent reversal of anemia in a patient with variants in the TRIB2 and ABCB6 genes.Blood advances · 2022Article
- ABCB6 polymorphisms are not overly represented in patients with porphyria.Blood advances · 2022Article
- Recognized and Emerging Features of Erythropoietic and X-Linked Protoporphyria.Diagnostics (Basel, Switzerland) · 2022Review
- Regulation of Heme Synthesis by Mitochondrial Homeostasis Proteins.Frontiers in cell and developmental biology · 2022Review
- Molecular insights into the human ABCB6 transporter.Cell discovery · 2021Article
- Geographic prevalence variation and phenotype penetrance in porphyria: insights from a Chinese population database.Blood advances · 2021Article
- Cryo-electron microscopy structure of human ABCB6 transporter.Protein science : a publication of the Protein Society · 2020Article
- Recent advances in the epidemiology and genetics of acute intermittent porphyria.Intractable & rare diseases research · 2020Review
- 20,000 picometers under the OMM: diving into the vastness of mitochondrial metabolite transport.EMBO reports · 2020Review
- ABCG2 requires a single aromatic amino acid to "clamp" substrates and inhibitors into the binding pocket.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2020Article
Corrections and comments
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Authors and funding
17 authors at 6 institutions in 5 countries.
Funding
Abstract
Hereditary porphyrias are caused by mutations in genes that encode haem biosynthetic enzymes with resultant buildup of cytotoxic metabolic porphyrin intermediates. A long-standing open question is why the same causal porphyria mutations exhibit widely variable penetrance and expressivity in different individuals. Here we show that severely affected porphyria patients harbour variant alleles in the ABCB6 gene, also known as Lan, which encodes an ATP-binding cassette (ABC) transporter. Plasma membrane ABCB6 exports a variety of disease-related porphyrins. Functional studies show that most of these ABCB6 variants are expressed poorly and/or have impaired function. Accordingly, homozygous disruption of the Abcb6 gene in mice exacerbates porphyria phenotypes in the Fech(m1Pas) mouse model, as evidenced by increased porphyrin accumulation, and marked liver injury. Collectively, these studies support ABCB6 role as a genetic modifier of porphyria and suggest that porphyrin-inducing drugs may produce excessive toxicities in individuals with the rare Lan(-) blood type.
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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.