PITX3
Chr 10ADARpaired like homeodomain 3
Also known as: ASGD1, ASMD, ASOD, CTPP4, CTRCT11
This gene encodes a transcription factor essential for lens development and the differentiation and maintenance of dopaminergic neurons in the brain. Mutations cause congenital cataracts and anterior segment dysgenesis affecting eye development, with inheritance patterns that can be either autosomal dominant or autosomal recessive depending on the specific mutation. The gene is highly constrained against loss-of-function variants (pLI 0.81, LOEUF 0.48), indicating that complete loss of protein function is likely not tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
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
PITX3 · 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