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LIS3
Chr 12ADtubulin alpha 1a
Also known as: B-ALPHA-1, LIS3, TUBA3
Encodes alpha tubulin, a major component of microtubules that is predominantly expressed in neurologically differentiated cells and critical for proper neuronal migration during brain development. Mutations cause lissencephaly type 3, characterized by microcephaly, intellectual disability, and early-onset epilepsy due to defective neuronal migration. Inheritance is autosomal dominant.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/LIS3?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
LIS3 · 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 →No open access results found
External Resources
Links to major genomics databases and tools