CEP83

Last update 08 May 2025

Basic Info

Synonyms

CCDC41, centrosomal protein 83, Centrosomal protein of 83 kDa

+ [5]

Introduction

Component of the distal appendage region of the centriole involved in the initiation of primary cilium assembly. May collaborate with IFT20 in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium during the initiation of primary cilium assembly.

100 Clinical Results associated with CEP83

100 Translational Medicine associated with CEP83

0 Patents (Medical) associated with CEP83

Literatures (Medical) associated with CEP83

01 Jan 2025·American Journal of Medical Genetics Part A

Bilateral Perisylvian Polymicrogyria, Intellectual Disability and Nephronophthisis Associated With Compound Heterozygous Pathogenic Variants in the CEP83 Gene

Article

Author: Mei, Davide ; Rutigliano, Domenico ; Balestrini, Simona ; Parrini, Elena ; Guerrini, Renzo ; Ricci, Maria Luisa

ABSTRACTThe centrosomal protein 83 (CEP83) is a centriolar protein involved in primary cilium assembly, an early and critical step in ciliogenesis. Bi‐allelic pathogenic variants in the CEP83 gene have been associated with infantile nephronophthisis and, in a few patients, retinitis pigmentosa. We describe a 5‐year‐old boy with bilateral perisylvian polymicrogyria, intellectual disability, and nephronophthisis in whom, using exome sequencing, we identified the c.1052T>G p.(Leu351*) stopgain variant inherited from the father and the c.2024T>C p.(Leu675Pro) missense variant inherited from the mother, in a compound heterozygous pattern. Polymicrogyria or, in general, malformations of cortical development had not been previously observed in patients with pathogenic CEP83 variants. However, defects in CEP83 can affect the formation and function of cilia or centrosomal structures, resulting in a polymicrogyric pattern overlapping with that associated with pathogenic variants affecting other genes coding for centrosomal components. This observation expands the spectrum of phenotypes associated with the CEP83 gene and adds it to the list of genes associated with bilateral perisylvian polymicrogyria.

01 Jan 2023·Methods in cell biology

Multi-color live-cell fluorescence imaging of primary ciliary membrane assembly and dynamics.

Article

Author: Lu, Quanlong ; Westlake, Christopher J

The ciliary membrane is continuous with the plasma membrane but has distinct lipid and protein composition, which is key to defining the function of the primary cilium. Ciliary membranes dynamically assemble and disassemble in association with the cell cycle and directly transmit signals and molecules through budding membranes. Various imaging approaches have greatly advanced the understanding of the ciliary membrane function. In particular, fluorescence live-cell imaging has revealed important insights into the dynamics of ciliary membrane assembly by monitoring the changes of fluorescent-tagged ciliary proteins. Protein dynamics can be tracked simultaneously using multi-color live cell imaging by coupling ciliary-associated factors with different colored fluorescent tags. Ciliary membrane and membrane associated-proteins such as Smoothened, 5-HTr6, SSTR3, Rab8a, and Arl13b have been used to track ciliary membranes and centriole proteins like Centrin1/2, CEP164, and CEP83 are often used to mark the ciliary basal body. Here, we describe a method for studying ciliogenesis membrane dynamics using spinning disk confocal live-cell imaging.

06 Sep 2021·Journal of Cell BiologyQ1 · BIOLOGY

A ciliopathy complex builds distal appendages to initiate ciliogenesis

Q1 · BIOLOGY

Article

Author: Rains, Addison ; Swaney, Danielle L. ; Yoder, Bradley K. ; Westlake, Christopher ; Krogan, Nevan J. ; Shi, Xiaoyu ; Stevenson, Erica ; Huang, Bo ; Reiter, Jeremy F. ; Lu, Quanlong ; Kumar, Dhivya ; Herranz-Pérez, Vicente ; Garcia-Verdugo, Jose Manuel

Cells inherit two centrioles, the older of which is uniquely capable of generating a cilium. Using proteomics and superresolved imaging, we identify a module that we term DISCO (distal centriole complex). The DISCO components CEP90, MNR, and OFD1 underlie human ciliopathies. This complex localizes to both distal centrioles and centriolar satellites, proteinaceous granules surrounding centrioles. Cells and mice lacking CEP90 or MNR do not generate cilia, fail to assemble distal appendages, and do not transduce Hedgehog signals. Disrupting the satellite pools does not affect distal appendage assembly, indicating that it is the centriolar populations of MNR and CEP90 that are critical for ciliogenesis. CEP90 recruits the most proximal known distal appendage component, CEP83, to root distal appendage formation, an early step in ciliogenesis. In addition, MNR, but not CEP90, restricts centriolar length by recruiting OFD1. We conclude that DISCO acts at the distal centriole to support ciliogenesis by restraining centriole length and assembling distal appendages, defects in which cause human ciliopathies.

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CEP83

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