The CCP110 gene encodes a protein involved in key cellular processes such as centrosome duplication, spindle formation and the regulation of cytokinesis. CCP110 acts as a negative regulator of ciliogenesis by interacting with CEP97 to cap the mother centriole. The protein is also capable of positively regulating cilium assembly. CCP110 is further involved in several biological processes such as centriole replication, ciliary basal body docking and organization, as well as G2/M transition of mitotic cell cycle.
The CCP110 gene is located on the short arm of chromosome 16. It spans a length of 29.5 kb of DNA and its coding sequence is spread across 17 exons. The gene encodes a protein with a molecular mass of 113.4 kDa comprised of 1012 amino acids. An additional isoform of the CCP110 protein, consisting of 991 amino acids, is encoded by an alternatively spliced transcript variant. It is found to be overexpressed in the testis, platelets, kidney and fetal brain.
Monies et al. (2017) studied the findings of 1000 diagnostic panels and exomes carried out at a next generation sequencing lab in Saudi Arabia. One patient, a 3-year-old male from a consanguineous family, presented with a failure to thrive, global developmental delay, short stature, microcephaly and hypotonia. He was found to suffer from Tetralogy of Fallot. Using whole exome sequencing, a heterozygous mutation (c.1355A>G, p.D452G) was identified in exon 4 of the patient’s CCP110 gene. This gene mutation was considered a candidate for pathogenicity based on several reasons: it was a novel variant and was predicted to be deleterious; the CCP110 gene encodes a ciliary protein; and the Ccp110 knockout mouse model shows overlapping features. The authors noted that further studies were required to independently confirm this association.
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