FEZ1
Chr 11fasciculation and elongation protein zeta 1
Also known as: UNC-76
This protein functions in axonal outgrowth and guidance, and participates in the transport of mitochondria and other cargos along microtubules. Mutations cause neurodevelopmental disorders with intellectual disability, developmental delay, and seizures, inherited in an autosomal recessive pattern. The gene shows high constraint against loss-of-function variants (LOEUF 0.41), consistent with its essential role in neuronal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
123 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 58 | 0 | 58 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 43 | 4 | 0 | 47 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 1 | 2 | 1 | 4 |
| Total | 0 | 44 | 66 | 1 | 111 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FEZ1 · 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