TRMT1 is a gene that produces an enzyme responsible for modifying transfer ribonucleic acid (tRNA), which is a type of RNA molecule that helps translate a messenger RNA (mRNA) sequence into a protein. Mutations in TRMT1 disrupt the function of tRNA. The brain appears to be very sensitive to defects in tRNA modification, which may explain the signs and symptoms described in the Clinical Characteristics Section.
TRMT1