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CRDHL2
Chr 20ARcentrosomal protein 250
Also known as: C-NAP1, CEP2, CNAP1, CRDHL2
The protein is a core centrosomal component that maintains centriole-centriole cohesion during interphase and dissociates when parental centrioles separate at mitosis onset. Mutations cause cone-rod dystrophy and hearing loss 2, affecting both vision and hearing systems. Inheritance is autosomal recessive.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CRDHL2?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CRDHL2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools