POU3F1
Chr 1POU class 3 homeobox 1
Also known as: OCT6, OTF6, SCIP
POU3F1 encodes a transcription factor that binds to specific DNA sequences (octamer motifs) and regulates gene expression, including repression of myelin-specific genes during nervous system development. Mutations cause neurodevelopmental disorders with intellectual disability, often accompanied by ocular abnormalities, and follow an autosomal dominant inheritance pattern. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.705), consistent with its role in essential developmental processes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
POU3F1 · 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