CEP120

Last update 08 May 2025

Basic Info

Synonyms

CCDC100, centrosomal protein 120, Centrosomal protein of 120 kDa

+ [3]

Introduction

Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper positioning of neurons during brain development. Also implicated in the migration and selfrenewal of neural progenitors. Required for centriole duplication and maturation during mitosis and subsequent ciliogenesis (By similarity). Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner (PubMed:27185865).

100 Clinical Results associated with CEP120

100 Translational Medicine associated with CEP120

0 Patents (Medical) associated with CEP120

Literatures (Medical) associated with CEP120

07 Apr 2025·Journal of Cell Biology

Centriole structural integrity defects are a crucial feature of hydrolethalus syndrome

Article

Author: Holland, Andrew J. ; Curinha, Ana ; Strong, Margaret A. ; Phan, Thao P. ; Huang, Zhaoyu ; Nicholas, Zachary ; Jewett, Cayla E. ; Anglen, Taylor ; Friskes, Anoek ; Gliech, Colin R.

Hydrolethalus syndrome (HLS) is a lethal, autosomal recessive ciliopathy caused by the mutation of the conserved centriole protein HYLS1. How HYLS1 controls centriole function is poorly understood. Here, we show that mice harboring the HYLS1 disease mutation die shortly after birth and exhibit developmental defects that recapitulate several manifestations of HLS. These phenotypes arise from a loss of centriole integrity that causes tissue-specific defects in cilia assembly and function. We show that HYLS1 is recruited to the centriole by CEP120 and stabilizes the localization of centriole inner scaffold proteins that ensure the integrity of the centriolar microtubule wall. The HLS disease mutation reduced the centriole localization of HYLS1 and caused degeneration of the centriole distal end. We propose that tissue-specific defects in centriole integrity caused by the HYLS1 mutation prevent ciliogenesis and contribute to HLS phenotypes.

01 Apr 2024·American Journal of Medical Genetics Part A

RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31

Article

Author: Lemire, Gabrielle ; Davila, Jorge ; Boycott, Kym M ; Couse, Madeline ; Marshall, Aren E ; Kernohan, Kristin D ; Liang, Yijing

01 Mar 2024·Journal of Genetic Engineering and Biotechnology

Role of gene interactions in the pathophysiology of skeletal dysplasias: A case report in Colombia

Article

Author: Madrid, Nathalie Yepes ; Giraldo, Lina Johanna Moreno

BACKGROUNDGenome association studies have shown that gene-gene interactions or epistasis play a crucial role in identifying the etiology, prognosis, and treatment response of many complex diseases beyond their main effects. Skeletal dysplasias are a heterogeneous group of congenital bone and cartilage disorders with a genetic and gen-gen interaction etiology. The current classification of skeletal dysplasias distinguishes 461 diseases in 42 groups, and the incidence of all skeletal dysplasias is more than 1 in every 5000 newborns. The objective is to present the case of a patient with four variants that generates gen-gen interactions in the skeletal dysplasia.CASE PRESENTATIONA 1-year-old male patient was diagnosed with skeletal dysplasia based on prenatal ultrasound showing micromelia and pyelocalyceal dilation. Postnatal physical examination revealed body disproportion and involvement of other organs and systems.MATERIALS AND METHODSA sequencing study and deletions/duplications analysis were performed for 358 candidate genes associated with skeletal dysplasia. The GeneMANIA interface was used to evaluate the expression network of genes associated with each other for the gen-gen interaction.RESULTSFour pathogenic variants were obtained two heterozygous variants with pathogenic significance in SLC26A, one heterozygous pathogenic variant in CLCN7 and another heterozygous pathogenic variant in CEP120. The GeneMANIA interface reveals 77.64% physical interactions, 8.01% co-expression, 5.37% prediction, 3.63% co-localization, 2.87% genetic interactions, 1.88% route of action, and 0.60% shared protein domains.DISCUSSION AND CONCLUSIONSThese results suggest that the interaction between these genes affects the activity of the inorganic anion exchanger, leading to disorganization of collagen fibers, early mineralization, and decreased assembly of fibronectin in the bone extracellular matrix. Identifying gene-gene interactions is a fundamental step in understanding proper cell function and thus understanding the pathophysiology of many complex human diseases, improving diagnosis, and the possibilities of new personalized therapies.

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CEP120

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