CEP250

Chr 20q11.22

centrosomal protein 250

Aliases:: C-NAP1
MANE:: ENST00000397527.6

OMIM: 609689 ↗NCBI: 11190 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CEP250 · Q9BV73

v62025-08-01

Predicted Aligned Error matrix for CEP250 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.4/ 100

Low

2,442 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)47%
Low(50–70)37%
Very low(< 50)16%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

cone-rod dystrophy and hearing loss
0.78
Retinal dystrophy
0.55
inherited retinal dystrophy
0.37
Usher syndrome
0.35
Abnormality of the skeletal system
0.26
optic atrophy
0.16
Hypercholesterolemia
0.10
retinitis pigmentosa
0.10
stroke disorder
0.10
alcohol drinking
0.10

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Centrosome-associated protein CEP250

Plays an important role in centrosome cohesion during interphase (PubMed:30404835, PubMed:36282799). Recruits CCDC102B to the proximal ends of centrioles (PubMed:30404835). Maintains centrosome cohesion by forming intercentriolar linkages (PubMed:36282799). Accumulates at the proximal end of each centriole, forming supramolecular assemblies with viscous material properties that promote organelle cohesion (PubMed:36282799). May be involved in ciliogenesis (PubMed:28005958)