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Centrosomal protein 164 (CEP164)
- Target
- CEP164
- Molecular classification
- Other (centrosomal/basal body protein, structural appendage protein)
01
Overview
Centrosomal protein 164 (CEP164) is a structural component of distal appendages on mature centrioles, playing a critical role in the initiation of ciliogenesis by recruiting Tau tubulin kinase 2 (TTBK2) and facilitating primary cilia assembly[1][3][5][7]. It is also implicated in microtubule organization, maintenance of the centrosome, and cellular responses to DNA damage through ATR/ATM signaling pathways[4][5][7]. Mutations in CEP164 cause ciliopathies such as nephronophthisis and other syndromes affecting ciliary function. CEP164 serves as an essential marker for distal appendages and is extensively used in research to study the assembly and maintenance of primary cilia[3][5]. There are currently no drugs or known pharmacological modulators targeting CEP164.
- Other names
- Centrosomal protein of 164 kDaCEP164KIAA1052NPHP15
02
Mechanism of action
Not applicable; no pharmacological agents target CEP164.
03
Biological functions
Formation of primary cilia (ciliogenesis)Microtubule organization and maintenanceCentriole and centrosome structureDNA damage response (response to UV light, ATR/ATM signaling)Chromosome segregation
04
Disease associations
Nephronophthisis-related ciliopathies (NPHP15)Senior-Loken syndromeOther cilia-related genetic disorders
05
Biomarkers
CEP164 itself is used as a marker protein for distal appendages of centrioles and primary cilia formation in cell biology and pathology researchNo current clinical biomarkers utilizing CEP164 for patient selection or therapy monitoring
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