DISEASES

Disease-gene associations mined from literature

Literature associating NSUN4 and Dubowitz syndrome

NSUN4 [ENSP00000419740]

5-methylcytosine rRNA methyltransferase NSUN4; Involved in mitochondrial ribosome assembly. 5-methylcytosine rRNA methyltransferase that probably is involved in mitochondrial ribosome small subunit (SSU) maturation by methylation of mitochondrial 12S rRNA; the function is independent of MTERFD2/MTERF4 and assembled mitochondrial ribosome large subunit (LSU). Targeted to LSU by MTERFD2/MTERF4 and probably is involved in a final step in ribosome biogenesis to ensure that SSU and LSU are assembled. In vitro can methylate 16S rRNA of the LSU; the methylation is enhanced by MTERFD/MTERF4; Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.

Synonyms:  NSUN4,  NSUN4p,  hNSUN4,  A0A087WT36,  A0A087WUV3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM