PAX6
Chr 11ADpaired box 6
Also known as: AN, AN1, AN2, ASGD5, D11S812E, FVH1, MGDA, WAGR
PAX6 encodes a transcription factor containing paired box and homeobox domains that regulates gene expression essential for eye and neural tissue development. Mutations cause autosomal dominant ocular disorders including aniridia, anterior segment dysgenesis, foveal hypoplasia, microphthalmia/coloboma, and optic nerve abnormalities through loss of function mechanisms. The protein is highly intolerant to loss-of-function variants, reflecting its critical role in eye development.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PAX6 · 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
External Resources
Links to major genomics databases and tools