Relevance to Autism

Rare de novo variants (one loss-of-function, one damaging missense) were identified in ASD probands from the Simons Simplex Collection (Iossifov et al., 2012; Iossifov et al., 2014). Gregor et al., 2018 reported 20 individuals with de novo FBXO11 variants presenting with a variable neurodevelopmental disorder; behavioral abnormalities (including ASD or autistic features) were observed in 17/20 cases.

Molecular Function

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It can function as an arginine methyltransferase that symmetrically dimethylates arginine residues, and it acts as an adaptor protein to mediate the neddylation of p53, which leads to the suppression of p53 function.

External Links

References