TRMT10B

Chr 9

tRNA methyltransferase 10B

Also known as: RG9MTD3, bA3J10.9

NCBI Gene: 158234 ENSG00000165275 UniProt: Q6PF06

The protein is an S-adenosyl-L-methionine-dependent methyltransferase that catalyzes the formation of N(1)-methylguanine at position 9 in tRNAs and is involved in protein insertion into the mitochondrial inner membrane as part of the TIM22 complex. Mutations cause microcephaly, short stature, and limb defects with autosomal recessive inheritance. The gene shows extremely high constraint against loss-of-function variants (pLI near 1.0), indicating that complete loss of function is likely incompatible with normal development.

ResearchSummary from RefSeq, UniProt

Enables tRNA (guanosine(9)-N1)-methyltransferase activity. Involved in protein insertion into mitochondrial inner membrane. Located in cytosol and mitochondrial inner membrane. Part of TIM22 mitochondrial import inner membrane insertion complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.02

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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