Everything published about the FBXO28 gene, in one place: the clinical papers on FBXO28-related developmental and epileptic encephalopathy (DEE100), the laboratory work on what the protein does, and the databases where the gene and its variants are catalogued. Forty-six papers are indexed in PubMed under FBXO28 as at 14 September 2026. All of them are here.
This page is for clinicians, researchers and anyone who wants to read the original sources. Families looking for a plain-language explanation should start with FBXO28 & DEE100.
How to read the labels. Open access — free to read and licensed for sharing (Creative Commons). Free to read — free at the publisher or in PubMed Central, but not licensed for redistribution. Subscription — the abstract is free; the full text is available through the journal or a library. Every title links to the publisher’s version of record. Where the licence allows it, a copy of the PDF is also kept on this site, with the source and licence recorded in the file.
Clinical literature on FBXO28-related DEE (DEE100)
Twelve papers, in chronological order. Together they describe fewer than twenty people. The 2021 paper by Schneider and colleagues is the one that defined the condition.
First paper to single out FBXO28 as the likely cause of intellectual disability and seizures in the 1q41q42 microdeletion syndrome.
FBXO28 is a critical gene of the 1q41q42 microdeletion syndrome.
Argues that FBXO28 is the critical gene of the 1q41q42 deletion.
The crucial role of FBXO28 in the pathogenesis of the 1q41q42 microdeletion syndrome.
Case report supporting the central role of FBXO28 in the deletion phenotype.
Published reply to Papetti et al. — part of the scientific debate on which gene drives the phenotype.
First point mutation in FBXO28 described independently of a deletion: developmental delay, dysmorphic features, drug-resistant epilepsy.
First case from Japan; argues that the 1q41q42 deletion phenotype (WDR26 and FBXO28) is clinically recognisable.
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
The paper that defined DEE100 as a condition: ten individuals, epilepsy in all of them, profound intellectual disability in most. The reference everyone cites first.
Cytogenetic characterisation of a de novo paternal 1q41-q42.11 deletion in a teenager.
MR spectroscopy in a patient with FBXO28-related DEE — a potential imaging biomarker.
3′ UTR Deletion of FBXO28 in a Patient with Brain Abnormalities and Developmental Delay.
A 3’UTR deletion of FBXO28 in a patient with brain abnormalities and developmental delay but no epilepsy, inherited from an unaffected father — evidence that the spectrum has a milder end.
Hyperkinetic movement disorder in FBXO28-related developmental and epileptic encephalopathy.
Hyperkinetic movement disorder as a feature of FBXO28-related DEE. From a Polish team in Gdańsk.
Acetazolamide for central sleep apnoea in a child with an FBXO28 variant — the only pharmacological report on this gene.
Related
A different condition (temporal lobe epilepsy), but the same mechanism of interest: variants in the 3’UTR of FBXO28, among other genes.
What the FBXO28 protein does
FBXO28 is an F-box protein — one component of the SCF ubiquitin ligase, the machinery that tags other proteins for degradation. Almost everything known about it comes from cancer and cell-biology laboratories, not from neurology. Known substrates to date: MYC, TOP2A, SNAI1, SNAI2, MST1, PFKFB4, Rab27a, TRAF6, SMARCC2, and the protein itself. None of these studies looked at the brain.
Key mechanistic papers
The founding paper on FBXO28 biology: CDK-driven activation of SCF(FBXO28) promotes MYC-dependent transcription. Karolinska Institutet.
Fbxo28 promotes mitotic progression and regulates topoisomerase IIα-dependent DNA decatenation.
FBXO28 is needed for normal progression through mitosis and for topoisomerase IIα-dependent DNA decatenation.
SCF(FBXO28)-mediated self-ubiquitination of FBXO28 promotes its degradation.
FBXO28 controls its own degradation by self-ubiquitination — relevant because a truncated protein may escape this control.
FBXO28 regulates SMARCC2 ubiquitination. SMARCC2 is itself a neurodevelopmental-disorder gene — the only described substrate with a clear neurodevelopmental link.
FBXO28 suppresses liver cancer invasion and metastasis by promoting PKA-dependent SNAI2 degradation.
Here FBXO28 acts as a suppressor, degrading SNAI2 — a reminder that its effect depends on context.
PFKFB4 interacts with FBXO28 to promote HIF-1α signaling in glioblastoma.
PFKFB4 binds FBXO28 and drives HIF-1α signalling in glioblastoma.
New substrate: MST1, via the Hippo pathway.
FBXO28 targets SNAI1 for ubiquitin-proteasomal degradation in non-small cell lung cancer.
New substrate: SNAI1.
New substrate outside oncology: Rab27a, in allergic inflammation.
Fbxo28 is essential for spindle migration and morphology during mouse oocyte meiosis I.
The only published animal phenotype: Fbxo28 is essential for spindle migration in mouse oocyte meiosis. No neurological model exists in any organism.
A Bacterial Platform for Studying Ubiquitination Cascades Anchored by SCF-Type E3 Ubiquitin Ligases.
A bacterial platform for studying SCF-type ubiquitination cascades — a methods resource.
Other studies mentioning FBXO28
Papers in which FBXO28 appears in a screen, a signature or a pathway, without being the main subject. Listed for completeness, newest first within each field.
- Song W et al. (2026). F-box protein 28 serves as a prognostic and predictive biomarker for gastric cancer. Transl Cancer Res. PubMed · Full text (PMC) Open access · CC-BY-NC-ND
- Liu X et al. (2026). Nanopore sequencing identifies high-frequency somatic structural variations in laryngeal squamous cell carcinoma genomes. Genome Res. PubMed Open access · CC-BY
- Deng J et al. (2026). Small-molecule degraders for oncogenic KRAS(G12C) and pan-KRAS mutations. Nat Commun. PubMed · Full text (PMC) Open access · CC-BY-NC-ND
- Song G et al. (2024). FBXO28 promotes cell proliferation, migration and invasion via upregulation of the TGF-beta1/SMAD2/3 signaling pathway in ovarian cancer. BMC Cancer. PubMed · Full text (PMC) Open access · CC-BY
- Zhang Y et al. (2021). Comprehensive Analysis of Expression, Prognostic Value, and Immune Infiltration for Ubiquitination-Related FBXOs in Pancreatic Ductal Adenocarcinoma. Front Immunol. PubMed · Full text (PMC) Open access · CC-BY
- Liu Y et al. (2021). Systematic analysis of the expression and prognosis relevance of FBXO family reveals the significance of FBXO1 in human breast cancer. Cancer Cell Int. PubMed · Full text (PMC) Open access · CC-BY
- De Melo J et al. (2017). Lysine-52 stabilizes the MYC oncoprotein through an SCF(Fbxw7)-independent mechanism. Oncogene. PubMed Free to read
- Hydbring P et al. (2017). MYC Modulation around the CDK2/p27/SKP2 Axis. Genes (Basel). PubMed · Full text (PMC) Open access · CC-BY
- Fagerholm R et al. (2017). TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer. Oncotarget. PubMed · Full text (PMC) Open access · CC-BY
- Liu X et al. (2026). Diagnostic and prognostic value of miR-885-5p in acute coronary syndrome and its regulatory mechanisms in endothelial injury. BMC Cardiovasc Disord. PubMed · Full text (PMC) Open access · CC-BY-NC-ND
- Qiu D et al. (2025). Upregulation of miR-502-5p in traumatic spinal cord injury modulates neuroinflammation and oxidative stress by targeting FBXO28. J Orthop Surg Res. PubMed · Full text (PMC) Open access · CC-BY-NC-ND
- Sun J et al. (2024). FBXO28 reduces high-fat diet-induced hyperlipidemia in mice by alleviating abnormal lipid metabolism and inflammatory responses. J Endocrinol Invest. PubMed Subscription
- Liu S et al. (2024). Role for the F-box proteins in heart diseases. Pharmacol Res. PubMed Open access · CC-BY-NC-ND
- Zou JF et al. (2020). Inhibition of microRNA-184 reduces H2O2-mediated cardiomyocyte injury via targeting FBXO28. Eur Rev Med Pharmacol Sci. PubMed Abstract only
- Yu T et al. (2019). Sublytic C5b-9 induces proliferation of glomerular mesangial cells via ERK5/MZF1/RGC-32 axis activated by FBXO28-TRAF6 complex. J Cell Mol Med. PubMed · Full text (PMC) Open access · CC-BY
- Gorrepati KDD et al. (2018). An SCF(FBXO28) E3 Ligase Protects Pancreatic β-Cells from Apoptosis. Int J Mol Sci. PubMed · Full text (PMC) Open access · CC-BY
- Zou C et al. (2016). LPS impairs oxygen utilization in epithelia by triggering degradation of the mitochondrial enzyme Alcat1. J Cell Sci. PubMed · Full text (PMC) Free to read
- Postow L et al. (2013). An SCF complex containing Fbxl12 mediates DNA damage-induced Ku80 ubiquitylation. Cell Cycle. PubMed · Full text (PMC) Free to read
- Hanus J et al. (2010). Identification of novel putative regulators of the major apoptotic nuclease DNA Fragmentation Factor. Acta Biochim Pol. PubMed Abstract only
- Zhang J et al. (2024). The Whole Genome DNA Methylation Signatures of Hindlimb Muscles in Chinese Alligators during Hibernation and Active Periods. Animals (Basel). PubMed · Full text (PMC) Open access · CC-BY
- Perron E et al. (2018). Melanocytic Myxoid Spindle Cell Tumor With ALK Rearrangement (MMySTAR): Report of 4 Cases of a Nevus Variant With Potential Diagnostic Challenge. Am J Surg Pathol. PubMed Subscription
- Alam MA et al. (2018). A kernel machine method for detecting higher order interactions in multimodal datasets: Application to schizophrenia. J Neurosci Methods. PubMed · Full text (PMC) Free to read
Databases and gene resources
- OMIM #619777 — Developmental and epileptic encephalopathy 100 (DEE100). The catalogue entry for the condition.
- OMIM *609100 — the FBXO28 gene entry.
- OMIM #612530 — Chromosome 1q41-q42 deletion syndrome, the larger deletion that first pointed to this gene.
- Orphanet — FBXO28 gene page; linked to ORPHA:442835, non-specific early-onset epileptic encephalopathy.
- NCBI Gene 23219 — gene summary, transcripts, orthologues.
- UniProt Q9NVF7 — F-box only protein 28, 368 amino acids; disease annotation: DEE100.
- ClinVar — variants reported in FBXO28. 132 records, of which 44 classified pathogenic or likely pathogenic, as at 15 September 2026 (many are larger deletions that include the gene).
- gnomAD — population frequencies of FBXO28 variants (Ensembl ENSG00000143756).
- DECIPHER — clinical and genomic data shared by diagnostic laboratories.
- PubMed: live search — every new paper mentioning FBXO28, newest first. This is the search behind this page.
For families
- FBXO28 & DEE100 on this site — what the gene is, what the condition looks like, what is not known.
- NORD — chromosome 1q41-q42 deletion syndrome — patient-oriented page on the larger deletion. It does not mention FBXO28 by name.
- Unique — Deletions and microdeletions — a family-friendly guide to what a chromosome deletion is. General, not specific to 1q41q42.
- Rare Epilepsy Network (REN) — the network the Foundation belongs to.
- For families on this site — how to get in touch, and the private Facebook group.
What is not yet in the literature
Sometimes what is missing says more than what exists.
- No new patient cohort since 2021. Fewer than twenty people have been described in total.
- No registry, natural-history study or biobank for FBXO28 anywhere in the world.
- No neurological or epilepsy model in any organism. The only published animal phenotype concerns mouse oocyte meiosis.
- No therapeutic programme for this gene, anywhere. One case report of a symptomatic treatment (acetazolamide for sleep apnoea) is the entire pharmacological literature.
- No preprints on FBXO28-related DEE on bioRxiv, medRxiv or Research Square as at September 2026.
These gaps are the Foundation’s research programme. See Research.
Suggest a resource
Know a paper, a dataset, a conference abstract or a resource for families that should be here? Send a link, or attach a PDF or Word file. We read everything that comes in, check it against the source, and add what fits. Nothing is published automatically.
Please do not send any patient documents through this form — no medical records, genetic reports, images or recordings. This page is for published and public material only. If you are a family, this is how to reach us.
How this page is kept current. A saved PubMed search for FBXO28 sends the Foundation an alert whenever a new paper is indexed. Suggestions from readers are added after checking. Last full review: 15 September 2026.