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LIS1
Chr 17ADplatelet activating factor acetylhydrolase 1b regulatory subunit 1
Also known as: LIS1, LIS2, MDCR, MDS, NudF, PAFAH
This gene encodes the regulatory subunit of platelet-activating factor acetylhydrolase and is essential for dynein-mediated processes including neuronal migration during brain development. Mutations cause lissencephaly 1 and subcortical laminar heterotopia, cortical malformation disorders that typically present in infancy with seizures and developmental delays. 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/LIS1?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
LIS1 · 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