Article
Biallelic loss-of-function variants in the centriolar protein CCP110 leads to a ciliopathy-like phenotype.
European journal of medical genetics - 1 Aug 2024
Suzuki Hisato, Muramatsu Yukako, Miya Fuyuki, Asada Hideyuki, Yamada Mamiko, Nishimura Gen, Kosaki Kenjiro, Takenouchi Toshiki
Abstract excerpt
CCP110 (centriolar coiled coil protein 110, also known as CP110) is one of the essential proteins localized in the centrosome that plays critical roles in the regulation of the cell cycle and also in the initiation of ciliogenesis. So far, no human congenital disorders have been identified to be associated with pathogenic variants of CCP110. Mice with biallelic loss-of-function variants of Ccp110 (Ccp110-/-) are...
Topics
- Humans
- Male
- Phenotype
- Ciliopathies
- Infant
- Cell Cycle Proteins
- Loss of Function Mutation
- Microtubule-Associated Proteins
- Alleles
- Cytoskeletal Proteins