TRMT11

Chr 6

tRNA methyltransferase 11

Also known as: C6orf75, MDS024, TRM11, TRMT11-1

NCBI Gene: 60487 ENSG00000066651 UniProt: Q7Z4G4

This protein is the catalytic subunit of a methyltransferase complex that adds methyl groups to guanosine at position 10 in tRNAs, which is essential for proper tRNA function. Mutations cause intellectual disability with microcephaly, growth retardation, and facial dysmorphism, following an autosomal recessive inheritance pattern. The gene shows extreme intolerance to loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

ResearchSummary from RefSeq, UniProt

Enables tRNA (guanine(10)-N2)-methyltransferase activity. Predicted to be involved in RNA methylation. Located in mitochondrion. Part of tRNA (m2G10) methyltransferase complex. Is active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.12

LOEUF

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Mechanism

Some data sources returned errors (1)