PRKCZ
Chr 1protein kinase C zeta
Also known as: PKC-ZETA, PKC2
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
199 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 127 |
Likely Pathogenic | — | — | — | — | 7 |
VUS | — | — | — | — | 37 |
Likely Benign | — | — | — | — | 7 |
Benign | — | — | — | — | 4 |
| Total | — | 182 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PRKCZ · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools