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LIS6
Chr 16ARkatanin regulatory subunit B1
Also known as: KAT, LIS6
The protein is the p60 catalytic subunit of katanin, an AAA family ATPase that severs and disassembles microtubules, while its p80 partner subunit targets the enzyme to the centrosome. Mutations cause lissencephaly 6 with microcephaly, a severe developmental brain malformation affecting cortical formation and resulting in intellectual disability and seizures. This condition follows autosomal recessive inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/LIS6?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
LIS6 · 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