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DRC8
Chr 1dynein regulatory complex subunit 8
Also known as: CFAP200, EFCAB2
The protein is a component of the nexin-dynein regulatory complex that maintains alignment and integrity of the distal axoneme and regulates microtubule sliding in motile cilia and flagella. Mutations cause primary ciliary dyskinesia, affecting the respiratory system, fertility, and laterality determination. The condition follows autosomal recessive inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DRC8?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
DRC8 · 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