NME3
Chr 16NME/NM23 nucleoside diphosphate kinase 3
Also known as: DR-nm23, NDK3, NDPK-C, NDPKC, NM23-H3, NM23H3, c371H6.2
The NME3 protein functions as a nucleoside diphosphate kinase that maintains nucleoside triphosphate homeostasis and plays critical roles in mitochondrial membrane fusion and DNA repair. Mutations cause autosomal recessive nephronophthisis, a ciliopathy presenting with progressive kidney disease that can lead to end-stage renal failure in childhood or adolescence. The gene shows minimal constraint against loss-of-function variants (very low pLI), consistent with recessive inheritance where heterozygous carriers are typically unaffected.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
NME3 · 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