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LIS7

Chr 7AR

cyclin 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.

OMIMResearchSummary from RefSeq, OMIM
AR1 OMIM phenotype
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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found