DISEASES

Disease-gene associations mined from literature

Literature associating TRMT5 and thiamine-responsive megaloblastic anemia syndrome

TRMT5 [ENSP00000261249]

tRNA (guanine(37)-N1)-methyltransferase; Involved in mitochondrial tRNA methylation. 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.

Synonyms:  TRMT5,  TRMT5p,  hTRMT5,  G3V494,  G3V5X1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM