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Target intelligence / Profile preview
Centrosomal Protein 290 (CEP290)
- Target
- CEP290
- Molecular classification
- Centrosomal protein, Ciliary protein
01
Overview
CEP290 is a centrosomal protein crucial for the structure and function of centrosomes and cilia, particularly in photoreceptor cells. The IVS26 mutation (c.2991+1655A>G) in intron 26 leads to aberrant splicing, reduced functional protein levels, and severe retinal dystrophy (LCA10). Therapeutic strategies, such as CRISPR/Cas9-based genome editing (e.g., EDIT-101), aim to correct the splicing defect and restore normal CEP290 expression.
- Other names
- LCA10NPHP6
02
Mechanism of action
CRISPR/Cas9-mediated genome editing to correct aberrant splicing caused by IVS26 mutation; restoration of normal mRNA processing and functional CEP290 expression
03
Biological functions
CiliogenesisCentrosome structure and functionPhotoreceptor maintenanceMicrotubule organizationProtein transport within photoreceptorsPrimary cilium formationRegulation of protein entry/exit from cilia
04
Disease associations
Leber Congenital Amaurosis type 10 (LCA10)Joubert SyndromeBardet-Biedl SyndromeRetinal degenerationCiliopathies
05
Safety considerations
Potential off-target effects of CRISPR/Cas9 editingImmunogenicity of AAV vectorOverexpression toxicity of CEP290 (mitigated in EDIT-101)Long-term efficacy and safety of gene editing
06
Interacting drugs
EDIT-101 (CRISPR/Cas9-based therapy)
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