NSMCE1
Chr 16NSE1 component of SMC5/6 complex
Also known as: NSE1
NSMCE1 encodes a RING-type E3 ubiquitin ligase that functions within the SMC5-SMC6 complex to maintain genome integrity through DNA damage response and homologous recombination-mediated DNA repair. Mutations cause an autosomal recessive primary immunodeficiency characterized by growth retardation, developmental delay, facial dysmorphism, and increased susceptibility to infections. The gene shows tolerance to loss-of-function variants (pLI 0.00002, LOEUF 1.178), consistent with the recessive inheritance pattern.
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
NSMCE1 · 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