TRMT1

Chr 19AR

tRNA methyltransferase 1

Also known as: MRT68, TRM1, hTRM1

NCBI Gene: 55621 ENSG00000104907 UniProt: Q9NXH9 OMIM: 611669

This gene encodes a tRNA methyltransferase that dimethylates guanine at position 26 of nuclear and mitochondrial tRNAs, which is required for redox homeostasis and proper cellular proliferation. Biallelic mutations cause autosomal recessive intellectual developmental disorder. The gene is not highly constrained against loss-of-function variants.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a tRNA-modifying enzyme that acts as a dimethyltransferase, modifying a single guanine residue at position 26 of the tRNA. The encoded enzyme has both mono- and dimethylase activity when exogenously expressed, and uses S-adenosyl methionine as a methyl donor. The C-terminal region of the encoded protein has both a zinc finger motif, and an arginine/proline-rich region. Mutations in this gene have been implicated in autosomal recessive intellectual disorder (ARID). Alternative splicing results in multiple transcript variants encoding different isoforms. There is a pseudogene of this gene on the X chromosome. [provided by RefSeq, May 2017]

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 0.941 OMIM phenotype

Clinical Summary— TRMT1

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Gene-Disease Validity (ClinGen)

complex neurodevelopmental disorder · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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