DISEASES

Disease-gene associations mined from literature

Literature associating FTSJ2 and mitochondrial DNA depletion syndrome

FTSJ2 [ENSP00000242257]

16S rRNA (uridine(1369)-2'-O)-methyltransferase; S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O- methyluridine at position 1369 (Um1369) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain of the mtLSU rRNA; Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA methyltransferase RlmE family.

Synonyms:  FTSJ2,  FTSJ2p,  hFTSJ2,  DKFZP686J14194,  E9PGN6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM