TRMT5
Function
Involved in mitochondrial tRNA methylation (PubMed:26189817). Specifically methylates the N1 position of guanosine-37 in various tRNAs. Methylation is not dependent on the nature of the nucleoside 5' of the target nucleoside. This is the first step in the biosynthesis of wybutosine (yW), a modified base adjacent to the anticodon of tRNAs and required for accurate decoding.
Involvement in disease
Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay
PNSED
An autosomal recessive mitochondrial disorder with multisystemic and highly variable manifestations. Affected individuals suffer from a peripheral neuropathy, with distal muscle weakness and atrophy, and distal sensory impairment. Additional variable features include early-onset hypotonia and global developmental delay, poor or absent motor skills, exercise intolerance, poor growth, cerebellar signs, spasticity, and seizures. Biochemical analysis may show deficiencies in mitochondrial respiratory complex. Lactic acidosis is frequently observed.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the class I-like SAM-binding methyltransferase superfamily. TRM5/TYW2 family.
Cellular localization
- Mitochondrion matrix
- Nucleus
- Cytoplasm
- Predominantly in the mitochondria and in the nucleus.
Alternative names
KIAA1393, TRM5, TRMT5, tRNA (guanine(37)-N(1))-methyltransferase, M1G-methyltransferase, tRNA [GM37] methyltransferase, tRNA methyltransferase 5 homolog