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PNSED
Chr 14ARtRNA methyltransferase 5
Also known as: COXPD26, KIAA1393, PNSED, TRM5
TRMT5 encodes a tRNA methyltransferase that methylates the N1 position of guanosine-37 in selected tRNAs using S-adenosyl methionine, a critical post-transcriptional modification for proper tRNA function. Mutations cause peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay with autosomal recessive inheritance. This condition affects both the peripheral nervous system and muscle metabolism, presenting with neurological and exercise-related symptoms in childhood.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/PNSED?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PNSED · 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