PRKCZ

Chr 1

protein kinase C zeta

Also known as: PKC-ZETA, PKC2

NCBI Gene: 5590 ENSG00000067606 UniProt: Q05513 OMIM: 176982

Protein kinase C zeta is a calcium-independent serine/threonine kinase that functions in PI3K and MAP kinase signaling pathways, regulating cell proliferation, polarity, inflammatory responses, and neuronal processes including long-term potentiation. Mutations cause autosomal recessive primary microcephaly with seizures and developmental delay, with onset typically in infancy. The gene shows significant constraint against loss-of-function variants (LOEUF 0.4), indicating intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq, UniProt

Protein kinase C (PKC) zeta is a member of the PKC family of serine/threonine kinases which are involved in a variety of cellular processes such as proliferation, differentiation and secretion. Unlike the classical PKC isoenzymes which are calcium-dependent, PKC zeta exhibits a kinase activity which is independent of calcium and diacylglycerol but not of phosphatidylserine. Furthermore, it is insensitive to typical PKC inhibitors and cannot be activated by phorbol ester. Unlike the classical PKC isoenzymes, it has only a single zinc finger module. These structural and biochemical properties indicate that the zeta subspecies is related to, but distinct from other isoenzymes of PKC. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

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)

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P/LP submissions

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P/LP missense

0.40

LOEUF

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Mechanism