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DRC8

Chr 1

dynein 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.

OMIMResearchSummary from RefSeq, UniProt
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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found