ASTN1
Chr 1astrotactin 1
Also known as: ASTN
Astrotactin is a neuronal adhesion molecule that mediates glial-guided migration of postmitotic neuroblasts during brain development, particularly in the cerebrum, hippocampus, cerebellum, and olfactory bulb. Mutations cause autosomal dominant cortical dysplasia-complex with other brain malformations, typically manifesting as developmental abnormalities affecting multiple brain regions. The gene is highly constrained against loss-of-function variants, indicating that even heterozygous disruption can cause significant neurodevelopmental phenotypes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% 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
ASTN1 · 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