FBXO31 encodes F-box protein 31 (539 aa). Substrate-recognition component of the SCF(FBXO31) protein ligase complex, which specifically mediates the ubiquitination of proteins amidated at their C-terminus in response to oxidative stress, leading to their degradation by the proteasome. Highest expression in Brain Cerebellar Hemisphere (123.6 TPM) and Brain Cerebellum (121.3 TPM).

Intellectual disability, autosomal recessive 45 is associated with mutations in the FBXO31 gene on chromosome 16.

The FBXO31 protein participates in TRIM63 gene expression is stimulated by FOXO1 and FOXO3 pathway.

FBXO31 is classified as a druggable target (Clinically Actionable category) with score 0.0.

Genetic testing for FBXO31 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal recessive 45 has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 1 very common feature, 5 common features.

No clinical trials have been registered for intellectual disability, autosomal recessive 45.

15 publications have been identified in PubMed for intellectual disability, autosomal recessive 45. Research spans Case Report / Case Series (53%), Basic Science / Preclinical (27%), and Review / Meta-Analysis (13%).

Recent Publications

• Chaabouni M (2026). [PMID: 41854122](https://pubmed.ncbi.nlm.nih.gov/41854122/). *Clin Genet*. [Basic Science / Preclinical]

• Kiss S (2026). [PMID: 41631259](https://pubmed.ncbi.nlm.nih.gov/41631259/). *JIMD reports*. [Case Report / Case Series]

• Pedullà G (2026). [PMID: 41722179](https://pubmed.ncbi.nlm.nih.gov/41722179/). *Parkinsonism & related disorders*. [Case Report / Case Series]

• Ek M (2026). [PMID: 41514368](https://pubmed.ncbi.nlm.nih.gov/41514368/). *Genome medicine*. [Review / Meta-Analysis]

• Hassas N (2026). [PMID: 41718295](https://pubmed.ncbi.nlm.nih.gov/41718295/). *Reports (MDPI)*. [Case Report / Case Series]

• Coody TK (2025). [PMID: 41050551](https://pubmed.ncbi.nlm.nih.gov/41050551/). *Molecular genetics and metabolism reports*. [Case Report / Case Series]

• Zech M (2025). [PMID: 39937650](https://pubmed.ncbi.nlm.nih.gov/39937650/). *Brain : a journal of neurology*. [Basic Science / Preclinical]

• Shokrollahi N (2024). [PMID: 38421525](https://pubmed.ncbi.nlm.nih.gov/38421525/). *Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology*. [Case Report / Case Series]

• Aguirre AS (2024). [PMID: 39548419](https://pubmed.ncbi.nlm.nih.gov/39548419/). *BMC pediatrics*. [Case Report / Case Series]

• Zheng Y (2024). [PMID: 38433132](https://pubmed.ncbi.nlm.nih.gov/38433132/). *Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology*. [Case Report / Case Series]