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GeneE
3 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FBXO48
F-box protein 48
Chromosome 2 · 2p13.3
NCBI Gene: 554251Ensembl: ENSG00000204923.5HGNC: HGNC:33857UniProt: Q5FWF7
12PubMed Papers
18Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingubiquitin-like ligase-substrate adaptor activitySCF-dependent proteasomal ubiquitin-dependent protein catabolic processcytoplasmmultiple sclerosisliver diseaseautosomal recessive nonsyndromic hearing loss 9deafness
✦AI Summary

FBXO48 is an orphan F-box ubiquitin E3 ligase component that functions as a critical negative regulator of AMPK signaling. As a component of the SCF ubiquitin ligase complex, FBXO48 targets phosphorylated AMPK-α (pAMPK-α) for polyubiquitylation and proteasomal degradation, thereby suppressing AMPK-dependent metabolic pathways 1. This mechanism distinguishes FBXO48 from typical AMPK activators that enhance kinase activation; instead, FBXO48 inhibition preserves activated AMPK by preventing its degradation 1. Functionally, FBXO48 inhibition promotes mitochondrial fission, facilitates autophagy, and improves hepatic insulin sensitivity in obesity models, suggesting therapeutic potential for metabolic disease 1. FBXO48 is a paralogue of FBXO7, which is mutated in Parkinson disease type 15 (PARK15) 2. Although FBXO48 localizes to the PARK3 disease locus (2p13.3), genetic screening of Chinese Han Parkinson disease patients identified no pathogenic FBXO48 mutations, suggesting limited direct involvement in Parkinson disease etiology 2. Recent medicinal chemistry efforts have identified FBXO48 inhibitors with superior AMPK-stabilizing properties compared to metformin, showing promise for treating obesity and type 2 diabetes through GDF15 upregulation 3.

Sources cited
1
FBXO48 is an E3 ligase that targets phosphorylated AMPK-α for proteasomal degradation; FBXO48 inhibition preserves AMPK activity and improves metabolic outcomes
PMID: 33495648
2
FBXO48 is located at PARK3 locus and is a paralogue of FBXO7 (PARK15 gene), but no pathogenic mutations found in PD patients
PMID: 23485738
3
FBXO48 inhibitors enhance AMPK signaling and GDF15 induction for obesity and diabetes treatment
PMID: 37513338
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ18
multiple sclerosisOpen Targets
0.06Suggestive
liver diseaseOpen Targets
0.04Suggestive
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.04Suggestive
deafnessOpen Targets
0.04Suggestive
autosomal dominant nonsyndromic hearing lossOpen Targets
0.03Suggestive
Crigler-Najjar syndrome type 2Open Targets
0.03Suggestive
diabetes mellitusOpen Targets
0.03Suggestive
ThromboembolismOpen Targets
0.03Suggestive
venous thromboembolismOpen Targets
0.02Suggestive
deep vein thrombosisOpen Targets
0.02Suggestive
Parkinson diseaseOpen Targets
0.02Suggestive
Insulin resistanceOpen Targets
0.01Suggestive
non-alcoholic steatohepatitisOpen Targets
0.00Suggestive
type 2 diabetes mellitusOpen Targets
0.00Suggestive
progressive pseudorheumatoid arthropathy of childhoodOpen Targets
0.00Suggestive
esophageal cancerOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FBXW10Shared pathway100%FBXO46Shared pathway100%FBXO25Shared pathway100%FBXO24Shared pathway100%FBXO42Shared pathway100%FBXO34Shared pathway100%
Tissue Expression6 tissues
Liver
100%
Heart
82%
Ovary
80%
Brain
76%
Lung
65%
Bone Marrow
39%
Gene Interaction Network
Click a node to explore
FBXO48FBXW10FBXO46FBXO25FBXO24FBXO42FBXO34
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5FWF7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.28LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.79 [0.51–1.28]
RankingsWhere FBXO48 stands among ~20K protein-coding genes
  • #16,447of 20,598
    Most Researched12
  • #13,513of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedFBXO48
Sources retrieved3 papers
Response time—
📄 Sources
3
1
Design and Synthesis of AMPK Activators and GDF15 Inducers.
PMID: 37513338
Molecules · 2023
1.00
2
Genetic analysis of the FBXO48 gene in Chinese Han patients with Parkinson disease.
PMID: 23485738
Neurosci Lett · 2013
0.67
3
A Fbxo48 inhibitor prevents pAMPKα degradation and ameliorates insulin resistance.
PMID: 33495648
Nat Chem Biol · 2021
0.33