Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Centrosomal protein of 164 kDa

The gene CEP164 encodes a centrosome associated protein involved in microtubule organization, DNA damage response, and chromosome segregation. Mutations cause autosomal recessive ciliopathy nephronophthisis 15.


Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Nephronophthisis 15



Humbert MC et. al. (2012) ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.


Chaki M et. al. (2012) Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.


Kikuno R et. al. (1999) Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.


Andersen JS et. al. (2003) Proteomic characterization of the human centrosome by protein correlation profiling.


Graser S et. al. (2007) Cep164, a novel centriole appendage protein required for primary cilium formation.


Sivasubramaniam S et. al. (2008) Cep164 is a mediator protein required for the maintenance of genomic stability through modulation of MDC1, RPA, and CHK1.


Pan YR et. al. (2009) UV-dependent interaction between Cep164 and XPA mediates localization of Cep164 at sites of DNA damage and UV sensitivity.

Update: Sept. 26, 2018