PLK4

Chr 4

polo like kinase 4

Also known as: MCCRP2, SAK, STK18

NCBI Gene: 10733 ENSG00000142731 UniProt: O00444

The protein is a serine/threonine kinase that localizes to centrioles and regulates centriole duplication during the cell cycle. Mutations cause microcephaly and chorioretinopathy, autosomal recessive, 2, following an autosomal recessive inheritance pattern. The pathogenic mechanism involves dominant negative effects.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a member of the polo family of serine/threonine protein kinases. The protein localizes to centrioles, complex microtubule-based structures found in centrosomes, and regulates centriole duplication during the cell cycle. Three alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMicrocephaly and chorioretinopathy, autosomal recessive, 2

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.57

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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