Ensembl is currently experiencing issues

The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.

You can check Ensembl's status at status.ensembl.org

PNSED

Chr 14AR

tRNA methyltransferase 5

Also known as: COXPD26, KIAA1393, PNSED, TRM5

NCBI Gene: 57570 OMIM: 616539

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.

OMIM ResearchSummary from RefSeq, OMIM

tRNAs contain as many as 13 or 14 nucleotides that are modified posttranscriptionally by enzymes that are highly specific for particular nucleotides in the tRNA structure. TRMT5 methylates the N1 position of guanosine-37 (G37) in selected tRNAs using S-adenosyl methionine (Brule et al., 2004 [PubMed 15248782]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

AR1 OMIM phenotype

Clinical Summary— PNSED

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/PNSED?content-type=application/json&expand=1

gnomad: Error: Gene not found