NEURL4
Chr 17neuralized E3 ubiquitin protein ligase 4
NEURL4 encodes a protein that promotes CCP110 ubiquitination and proteasome-dependent degradation, maintaining normal centriolar homeostasis and preventing formation of ectopic microtubular organizing centers. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.21), suggesting that mutations would likely cause severe developmental phenotypes. However, no specific human disease has been definitively associated with NEURL4 mutations to date.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NEURL4 · 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