PARD6B

Chr 20

par-6 family cell polarity regulator beta

Also known as: PAR6B

NCBI Gene: 84612 ENSG00000124171 UniProt: Q9BYG5

PARD6B encodes an adapter protein that regulates asymmetrical cell division and cell polarization processes, particularly in the formation of epithelial tight junctions through interactions with PARD3 and atypical protein kinase C proteins. Mutations cause autosomal recessive lissencephaly with cerebellar hypoplasia, presenting in infancy with severe developmental delays and seizures. The gene is highly constrained against loss-of-function variants, reflecting its critical role in normal brain development.

ResearchSummary from RefSeq, UniProt

This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain, an OPR domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cytoplasmic protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. [provided by RefSeq, Jul 2008]

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

0.36

LOEUF

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Mechanism

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