NUP133
Chr 1ARnucleoporin 133
Also known as: GAMOS8, NPHS18, hNUP133
NUP133 encodes a nucleoporin that forms part of nuclear pore complexes, which regulate transport of molecules between the nucleus and cytoplasm, and is involved in poly(A)+ RNA transport and kidney development. Mutations cause autosomal recessive Galloway-Mowat syndrome 8 and nephrotic syndrome type 18, affecting the kidneys and potentially other organ systems. The gene is highly constrained against loss-of-function variants (LOEUF 0.448), indicating that complete loss of protein function is likely pathogenic.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NUP133 · 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