NEMF
Chr 14ARnuclear export mediator factor
Also known as: IDDSAPN, NY-CO-1, RQC2, SDCCAG1
The protein is a key component of the ribosome quality control complex that recognizes stalled ribosomes and facilitates the extraction and degradation of incompletely synthesized protein chains to prevent cellular toxicity. Biallelic mutations cause autosomal recessive intellectual developmental disorder with speech delay and axonal peripheral neuropathy. The gene is highly constrained against loss-of-function variants (LOEUF 0.415), indicating intolerance to protein disruption.
Strong evidence — appropriate for clinical testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NEMF · 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