PACRG
Chr 6parkin coregulated
Also known as: BUG21, GLUP, HAK005771, PACRG2.1, PARK2CRG, pf12
PACRG encodes a microtubule inner protein required for motile cilia beating and also suppresses neuronal cell death induced by unfolded proteins. Mutations cause primary ciliary dyskinesia with autosomal recessive inheritance, affecting respiratory function and ciliary motility. The gene shows minimal constraint to loss-of-function variants and forms molecular complexes with chaperones that may be protective in neurodegenerative processes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PACRG · 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