TRMT10B Gene: Function, Location, and Clinical Significance

TRMT10B encodes a tRNA methyltransferase enzyme that catalyzes the N1-methylation of guanine at position 9 (m1G9) in tRNA molecules. This modification is important for tRNA stability and proper protein translation. The protein is localized in the nucleus and cytoplasm, and its expression is ubiquitous across tissues. TRMT10B is part of the TRM10 family of methyltransferases, which also includes TRMT10A and TRMT10C. While TRMT10A has been linked to microcephaly and intellectual disability, TRMT10B's specific physiological roles are less characterized, but it is believed to contribute to similar tRNA modification processes.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• tRNA modification in the nucleus and cytoplasm

TRMT10B is a 45 kDa protein consisting of 400 amino acids. It contains a conserved methyltransferase domain that is responsible for its catalytic activity. The protein is involved in the post-transcriptional modification of tRNA, specifically adding a methyl group to the N1 position of guanine at position 9. This modification is crucial for maintaining the correct structure and function of tRNA, thereby ensuring accurate protein synthesis. TRMT10B is widely expressed, with higher levels in testis and brain, suggesting a role in tissues with high translational activity.