DISEASES

Disease-gene associations mined from literature

Literature associating SMG9 and arteriovenous malformations of the brain

SMG9 [ENSP00000270066]

SMG9 nonsense mediated mRNA decay factor; Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited by release factors to stalled ribosomes together with SMG1 and SMG8 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required for the efficient association between SMG1 and SMG8. Plays a role in brain, heart, and eye development (By similarity); Belongs to the SMG9 family.

Synonyms:  SMG9,  SMG9p,  hSMG9,  A0A024R0Q0,  FLJ12886 ...

Linkouts:  STRING  Pharos  UniProt