Disease-gene associations mined from literature

Literature associating RIOK2 and alcohol-related neurodevelopmental disorder

RIOK2 [ENSP00000283109]

Serine/threonine-protein kinase RIO2; Involved in the final steps of cytoplasmic maturation of the 40S ribosomal subunit. Involved in export of the 40S pre- ribosome particles (pre-40S) from the nucleus to the cytoplasm. Its catalytic activity is required for the release of NOB1, PNO1 and LTV1 from the late pre-40S and the processing of 18S-E pre- rRNA to the mature 18S rRNA.

Synonyms:  RIOK2,  RIOK2p,  hRIOK2,  D6RB96,  Q9BVS4 ...

Linkouts:  STRING  Pharos  UniProt