PARD3

Chr 10

par-3 family cell polarity regulator

Also known as: ASIP, Baz, PAR3, PAR3alpha, PARD-3, PARD3A, PPP1R118, SE2-5L16

NCBI Gene: 56288 ENSG00000148498 UniProt: Q8TEW0

The encoded protein is an adapter protein that regulates asymmetrical cell division, cell polarization, and epithelial tight junction formation, and is required for establishment of neuronal polarity and normal axon formation. Mutations cause autosomal dominant developmental and epileptic encephalopathy with onset typically in infancy or early childhood. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the PARD protein family. PARD family members interact with other PARD family members and other proteins; they affect asymmetrical cell division and direct polarized cell growth. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeural tube defects

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

0.31

LOEUF· LoF intol.

LOF

Mechanism· predicted

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