The RILPL2 gene encodes RAB-Interacting Lysosomal Protein-Like 2. As its name states, this protein is similar to the RILP protein and it consists of two RILP homology domains. The RILPL2 protein is not fully characterized and its function is yet to be completely understood. However, studies of its lower ortholog genes have helped elucidate possible roles it may play. It has been suggested to be involved in epithelial cell morphogenesis, cilium assembly and neuronal morphogenesis, regulating the organization of dendritic spines. It is also believed to be involved in cellular protein transport, particularly in the transport of proteins from the ciliary membrane to the plasma membrane.
The RILPL2 gene is located on the long arm of chromosome 12. It spans a length of 26.6 kb of DNA and its coding sequence is contained within just 6 exons. The gene encodes a 23.9 kDa protein product composed of 211 amino acids. RILPL2 is widely expressed in the human body with highest expression in the lung and placenta, and lower expression in the liver, kidney, pancreas, heart and brain.
Monies et al. (2017) analyzed the genomic landscape of Saudi Arabia based on the findings of 1000 diagnostic panels and exomes. One patient, a 13-year-old female, presented with skeletal dysplasia, mild speech delay, gross motor delay, learning disability and facial dysmorphia. Whole exome sequencing helped identify a homozygous mutation (c.161C>T, p.A54V) in exon 1 of the patient’s RILPL2 gene. This gene mutation was considered a candidate for pathogenicity as it was a novel variant located within a ‘run of homozygosity’ and was predicted to be deleterious; and studies have suggested RILPL2 to be a candidate ciliopathy gene, thus raising the possibility of this phenotype being a skeletal ciliopathy. The authors noted the need for independent confirmation of this association.
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