PARD6G

Chr 18

par-6 family cell polarity regulator gamma

Also known as: PAR-6G, PAR6gamma

NCBI Gene: 84552 ENSG00000178184 UniProt: Q9BYG4 OMIM: 608976

The protein encoded by this gene is an adapter protein involved in asymmetrical cell division and cell polarization processes, and may play a role in epithelial tight junction formation. Mutations cause autosomal recessive lissencephaly with cerebellar hypoplasia, a severe brain malformation presenting in early infancy with developmental delays, seizures, and distinctive neuroimaging findings. The gene shows relatively low constraint to loss-of-function variation.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to be involved in centrosome cycle; establishment or maintenance of cell polarity; and regulation of cellular localization. Predicted to be located in cytosol; plasma membrane; and tight junction. Predicted to be active in apical plasma membrane; cell cortex; and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

OMIM 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)

—

P/LP submissions

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P/LP missense

0.88

LOEUF

Multiple*

Mechanism· predicted