Centrosomal protein of 162 kDa (CEP162)

Centrosomal protein of 162 kDa (CEP162) is a centrosome- and microtubule-associated protein essential for the assembly of the ciliary transition zone (TZ), a key region at the base of cilia that regulates compartmentalization and signaling[1][2]. CEP162 is "pre-tethered" at centriole distal ends prior to ciliogenesis, where it directly binds to axonemal microtubules through its coiled-coil domains and promotes the recruitment of core transition zone components (e.g., CEP290, NPHP1, Tctn2)[1]. Loss of CEP162 disrupts TZ assembly and arrests ciliogenesis, resulting in cellular and tissue defects. In the retina, biallelic truncating mutations in CEP162 impair ciliary function specifically in photoreceptors, leading to late-onset retinitis pigmentosa, while maintaining partial neuronal differentiation functions[2]. CEP162 is not currently considered a direct therapeutic target, and no drugs are known to interact with it. Its primary biomedical relevance is as a causative gene for certain retinal ciliopathies and as a biomarker for associated inherited retinopathies[2].

Other names

Centrosomal protein 162CEP162C6orf84KIAA1009QN1protein QN1 homologcentrosomal protein 162kDa