DISEASES

Disease-gene associations mined from literature

Literature associating TRMT12 and 46,XY sex reversal 8

TRMT12 [ENSP00000329858]

tRNA wybutosine-synthesizing protein 2 homolog; S-adenosyl-L-methionine-dependent transferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the transfer of the alpha-amino-alpha-carboxypropyl (acp) group from S- adenosyl-L-methionine to the C-7 position of 4-demethylwyosine (imG-14) to produce wybutosine-86; Belongs to the class I-like SAM-binding methyltransferase superfamily. TRM5/TYW2 family.

Synonyms:  TRMT12,  TRMT12p,  hTRMT12,  E5RHH6,  Q53H54 ...

Linkouts:  STRING  Pharos  UniProt  OMIM