WDR74
Chr 11WD repeat domain 74
Also known as: Nsa1
The WDR74 protein regulates the MTREX-exosome complex and participates in early pre-rRNA processing steps required for 60S ribosomal subunit synthesis. Mutations cause autosomal recessive Galloway-Mowat syndrome, characterized by early-onset nephrotic syndrome, microcephaly, developmental delay, and seizures. This gene is extremely intolerant to loss-of-function mutations, reflecting its essential role in ribosome biogenesis.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
WDR74 · 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