FZD8
Chr 10frizzled class receptor 8
Also known as: FZ-8, hFZ8
The FZD8 protein is a seven-transmembrane receptor for Wnt signaling proteins that activates the beta-catenin canonical pathway, which is essential for tissue morphogenesis and cellular polarity during development. Mutations cause autosomal dominant microcephaly, seizures, and developmental delay, with onset in infancy or early childhood. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.
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
FZD8 · 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