Ccdc13, or coiled-coil domain-containing protein 13, is a centriolar satellite protein. It is involved in ciliogenesis and maintaining genome stability. Centriolar satellites are crucial for the organization of the centrosome, and Ccdc13's interaction with proteins like PCM1, Cep290, and pericentrin indicates its role in related cellular pathways [1].

In Ccdc13-depleted cells, microtubule organization is lost similar to PCM1 and Cep290 depletion, though it's not required for satellite integrity. Microtubule regrowth is enhanced upon depletion but slowed with overexpression. In serum-starved cells, it localizes to the basal body, is essential for primary cilia formation, and promotes BBS4 localization to centriolar satellites and cilia [1]. Ccdc13 germline knockout mice display hydrocephalus at birth, followed by optic neuropathy due to impaired axoplasmic transport at the optic nerve head. This shows that disruption of Ccdc13 leads to non-cell-autonomous optic neuropathy likely due to increased translaminar pressure gradient from hydrocephalus [2].

In conclusion, Ccdc13 is vital for ciliogenesis and genome stability. Studies using gene knockout mouse models have revealed its role in hydrocephalus-associated optic neuropathy. These findings contribute to understanding the mechanisms underlying cilia-related functions and certain neurological diseases.

References:

1. Staples, Christopher J, Myers, Katie N, Beveridge, Ryan D D, Boulton, Simon J, Collis, Spencer J. 2014. Ccdc13 is a novel human centriolar satellite protein required for ciliogenesis and genome stability. In Journal of cell science, 127, 2910-9. doi:10.1242/jcs.147785. https://pubmed.ncbi.nlm.nih.gov/24816561/

2. Wu, Mingjuan, Zhao, Xinyi, Peng, Shanzhen, Li, Tiansen, Liu, Chunqiao. . Progressive Optic Neuropathy in Hydrocephalic Ccdc13 Mutant Mice Caused by Impaired Axoplasmic Transport at the Optic Nerve Head. In Investigative ophthalmology & visual science, 65, 5. doi:10.1167/iovs.65.13.5. https://pubmed.ncbi.nlm.nih.gov/39499510/