POC1A
Chr 3ARPOC1 centriolar protein A
Also known as: PIX2, SOFT, WDR51A
The POC1A protein is essential for centriole assembly and stability, and plays a critical role in ciliogenesis and proper mitotic spindle formation. Biallelic mutations cause short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome, inherited in an autosomal recessive pattern. This gene is highly constrained against loss-of-function variants, reflecting its essential cellular functions.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
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
POC1A · 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