Aliases: CFAP169, DRC6, Fbl13
Chromosome No: 7
Chromosome Band: 7q22.1
Genetic Category: Rare single gene variant
ASD Reports: 2
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 4
Evidence score: 2
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Relevance to Autism
Transmission And De Novo Association (TADA) analysis of whole-genome sequencing data from a cohort of 4,551 individuals in 1,004 multiplex families having two or more autistic children identified FBXL13 as a novel ASD risk gene with a false discovery rate (FDR) less than 0.1. A de novo loss-of-function variant in this gene has also been observed in a Chinese ASD proband (Yuan et al., 2023).
Molecular Function
Members of the F-box protein family, such as FBXL13, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1, cullin (CUL1), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains. The protein encoded by this gene is a component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes.
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