SEZ6L

Chr 22

seizure related 6 homolog like

Also known as: SEZ6L1

NCBI Gene: 23544 ENSG00000100095 UniProt: Q9BYH1

The SEZ6L protein contributes to specialized endoplasmic reticulum functions in neurons and is predicted to be involved in synapse maturation and cerebellar Purkinje cell development. Mutations cause autosomal recessive neurodevelopmental disorders affecting the cerebellum and movement. The gene shows significant constraint against loss-of-function variants (LOEUF 0.37), suggesting intolerance to protein disruption.

ResearchSummary from RefSeq, UniProt

Predicted to be involved in synapse maturation. Predicted to act upstream of or within activation of protein kinase C activity; adult locomotory behavior; and cerebellar Purkinje cell layer development. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in several cellular components, including glutamatergic synapse; neuronal cell body; and postsynaptic membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.37

LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (1)

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