The FBXL22 gene encodes a member of the F-box family of proteins, named for the presence of a characteristic 40-amino acid F-box motif. These F-box proteins interact with SKP1 and CUL1 to form SCF complexes (SKP1-CUL1-F-box protein), which function as ubiquitin ligases. F-box proteins act as the substrate recognition component of these complexes. The SCF complex consisting of FBXL22 specifically targets the sarcomeric proteins alpha-actinin-2 (ACTN2) and filamin-C (FLNC) for ubiquitination.
The FBXL22 gene is located on the long arm of chromosome 15. It spans a length of 7.5 kb of DNA and its coding sequence is contained within just 4 exons. The gene encodes a 27 kDa protein product composed of 247 amino acids. Expression of the FBXL22 gene is seen in most tissues throughout the body.
Monies et al. (2017) examined the findings of 1000 diagnostic panels and exomes carried out at a next generation sequencing lab in Saudi Arabia. One patient, an 11-year-old male from a consanguineous family, suffered from muscle weakness of the proximal lower extremities. Using whole exome sequencing, a homozygous mutation (c.279G>C, p.K93N) was identified in exon 1 of the patient’s FBXL22 gene. This gene mutation was considered a candidate for pathogenicity as it was a novel variant located within the autozygome that was predicted to be deleterious, and the gene had been implicated in sarcomere physiology. The authors noted that further studies are required to independently confirm this association.
To contribute with your findings to the content of this record, please fill the CTGA Database Information Submission Form and email it, along with supportive documents, to email@example.com.