NT5M
Chr 175',3'-nucleotidase, mitochondrial
Also known as: dNT-2, dNT2, mdN
The protein is a mitochondrial matrix 5' nucleotidase that dephosphorylates uracil and thymine deoxyribonucleotides to protect mitochondrial DNA replication from excess dTTP. Mutations cause autosomal recessive spastic paraplegia-45, which presents with progressive spasticity and weakness of the lower extremities. The gene shows low constraint against loss-of-function variants, 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
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NT5M · 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 →No open access results found
External Resources
Links to major genomics databases and tools