DRC1
Chr 2ARdynein regulatory complex subunit 1
Also known as: C2orf39, CCDC164, CILD21, SPGF80
The DRC1 protein is a central component of the nexin-dynein complex that regulates ciliary dynein assembly, essential for proper ciliary function. Mutations cause autosomal recessive primary ciliary dyskinesia and male infertility due to spermatogenic failure. This gene is not highly constrained against loss-of-function variants, consistent with its recessive inheritance pattern affecting ciliary motility in respiratory tract and reproductive systems.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DRC1 · 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 →External Resources
Links to major genomics databases and tools