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TRMT12

Chr 8

tRNA wybutosine-synthesizing protein 2

Also known as: TRM12, TRMT12

NCBI Gene: 55039 UniProt: Q53H54 OMIM: 611244

The protein catalyzes transfer of amino acid groups from S-adenosyl-L-methionine during wybutosine biosynthesis, producing a hypermodified guanosine that stabilizes codon-anticodon interactions in phenylalanine tRNA during ribosomal protein synthesis. Mutations cause intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, inherited in an autosomal recessive pattern. The gene shows significant constraint against loss-of-function variants (LOEUF 0.53), indicating intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq, UniProt

Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TRMT12 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

LOEUF 0.53

Clinical Summary— TRMT12

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.23) despite low pLI — interpret in context.

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