TRMT2B

Chr X

tRNA methyltransferase 2B

Also known as: CXorf34, dJ341D10.3

NCBI Gene: 79979 ENSG00000188917 UniProt: Q96GJ1

The protein is a mitochondrial methyltransferase that catalyzes formation of 5-methyl-uridine modifications in mitochondrial tRNAs and 12S ribosomal RNA, essential for proper mitochondrial function. Mutations cause autosomal recessive intellectual disability with variable features including developmental delay, seizures, and growth abnormalities. The gene shows no significant constraint against loss-of-function variants, consistent with recessive inheritance patterns.

ResearchSummary from RefSeq, UniProt

This gene encodes a homolog of the TRM2 gene in S. cerevisiae. The yeast gene encodes a tRNA methyltransferase that plays a role in tRNA maturation. The yeast protein also has endo-exonuclease activity and may be involved in DNA double strand break repair. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Nov 2009]

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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