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CEP104
centrosomal protein 104
The *CEP104* gene provides instructions for making a protein crucial for building and maintaining cilia, which are tiny, hair-like structures involved in cell signalling and movement. The *CEP104* gene plays a fundamental role in the formation and organisation of the centrosome, a key cellular organelle that acts as the main microtubule-organising centre.
CEP104 is located on the short (p) arm of chromosome 1, at band 1p36.32. Arm ratio per GRCh38 - banding schematic.
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Overview
The *CEP104* gene encodes the Centrosomal Protein 104, a component of the centrosome. This cellular structure is vital for orchestrating cell division and for the assembly and function of cilia and flagella. Cilia are microscopic, hair-like appendages found on the surface of many cell types, where they serve various sensory and motility functions. Proper functioning of the *CEP104* gene is therefore critical for cellular processes that underpin the development and health of numerous tissues and organs throughout the human body.
What the gene does
The CEP104 protein is primarily located at the centrosome, where it contributes to the organisation of microtubules, the structural components that form the cytoskeleton. Specifically, CEP104 is involved in the biogenesis and maintenance of primary cilia, which are non-motile organelles extending from the cell surface. These cilia act as cellular antennae, detecting external signals and relaying them into the cell to regulate crucial developmental pathways. The protein's involvement in ciliogenesis suggests its importance in processes like cell signalling, proliferation, and differentiation. Disruptions in CEP104 function can lead to defective cilia formation or function, impacting a variety of physiological systems.
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Chromosome location
The *CEP104* gene is situated on chromosome 1, specifically at the band 1p36.32. This location refers to a specific region on the short (p) arm of chromosome 1. The gene's precise position helps geneticists study its organisation and potential links to surrounding genes.
Protein structure
The CEP104 protein consists of 925 amino acids and features several distinct domains. It includes two Coiled coil regions, one located between amino acids 209 and 289, and another between amino acids 677 and 725. The protein also contains two HEAT repeats: HEAT 1 from amino acids 529 to 567, and HEAT 2 from amino acids 604 to 640. Additionally, a Disordered region is observed towards the C-terminus, spanning amino acids 883 to 925.
Key variants
Genetic variants in the *CEP104* gene can alter the structure or function of the CEP104 protein. These changes may encompass missense, nonsense, or frameshift mutations, as well as larger deletions or duplications. The impact of a specific variant depends on its location within the gene and how it affects protein production or activity, potentially leading to impaired centrosome and cilia function.
Sample of pathogenic variants
10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.1051_1054del | p.Thr351fs | Pathogenic/Likely pathogenic | ★★☆☆ | Joubert syndrome 25 |
c.163C>T | p.Arg55Ter | Pathogenic/Likely pathogenic | ★★☆☆ | Joubert syndrome 25 |
c.300_301del | p.Leu100_Cys101insTer | Pathogenic/Likely pathogenic | ★★☆☆ | Joubert syndrome 25 |
c.759T>G | p.Tyr253Ter | Pathogenic/Likely pathogenic | ★★☆☆ | Joubert syndrome 25 |
c.808A>T | p.Lys270Ter | Pathogenic/Likely pathogenic | ★★☆☆ | Intellectual developmental disorder, autosomal recessive 77 |
c.895C>T | p.Arg299Ter | Pathogenic/Likely pathogenic | ★★☆☆ | Joubert syndrome 25 |
c.1031del | p.Lys344fs | Pathogenic | ★☆☆☆ | Joubert syndrome 25 |
c.1351C>T | p.Arg451Ter | Pathogenic | ★☆☆☆ | Joubert syndrome 25 |
c.157A>T | p.Arg53Ter | Pathogenic | ★☆☆☆ | Joubert syndrome 25 |
c.2364+1G>A | - | Pathogenic | ★☆☆☆ | Joubert syndrome and related disorders |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
While no specific conditions are recorded for *CEP104*, given its role in centrosome and cilia function, variants in this gene are generally associated with a group of genetic disorders known as ciliopathies. These conditions arise from dysfunctional cilia, affecting a wide array of organ systems, including the brain, kidneys, eyes, and skeleton. The inheritance pattern of conditions linked to *CEP104* can vary.
No disease links recorded for this gene in our reference set.
UK clinical status
The *CEP104* gene is included in several NHS Genomic Medicine Service national test panels. It is part of the green-rated genes for developmental disorders (DDG2P), foetal anomalies (R21), intellectual disability (R29), neurological ciliopathies, ophthalmological ciliopathies, and rare multisystem ciliopathy disorders. It is also listed on the renal ciliopathies panel.
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What is the primary function of the CEP104 protein?
The CEP104 protein is essential for the assembly and maintenance of the centrosome, which organises cellular microtubules. It plays a crucial role in forming and ensuring the proper function of primary cilia, enabling cells to receive and process signals.
How does the CEP104 gene relate to inherited conditions?
*CEP104* gene variants are generally associated with ciliopathies, a group of genetic disorders caused by dysfunctional cilia. These conditions can manifest with a variety of symptoms affecting multiple organ systems due to impaired cellular signalling.
Where is the *CEP104* gene located in the human genome?
The *CEP104* gene is located on chromosome 1, specifically within the short arm region designated as 1p36.32.