YWHAZ
Chr 8ADtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta
Also known as: 14-3-3-zeta, HEL-S-3, HEL-S-93, HEL4, KCIP-1, POPCHAS, YWHAD
The encoded protein is a 14-3-3 family adapter protein that regulates diverse signaling pathways by binding to phosphoserine- and phosphothreonine-containing proteins, modulating their activity and subcellular localization. Mutations cause Popov-Chang syndrome with autosomal dominant inheritance. This gene is highly constrained against loss-of-function variants, reflecting its essential role in cellular signaling.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Highly missense-constrained (top ~0.1%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
YWHAZ · 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