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LIS7
Chr 7ARcyclin dependent kinase 5
Also known as: LIS7, PSSALRE
This gene encodes a proline-directed serine/threonine kinase that functions in synaptic plasticity and neuronal migration through phosphorylation of proteins required for cytoskeletal organization, endocytosis and exocytosis, and apoptosis. Mutations cause lissencephaly 7 with cerebellar hypoplasia, a lethal autosomal recessive condition affecting brain development. The protein is predominantly expressed in postmitotic central nervous system neurons and does not directly control cell cycle regulation unlike other cyclin-dependent kinase family members.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/LIS7?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
LIS7 · 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