DISEASES

Disease-gene associations mined from literature

Literature associating SMG7 and progressive familial heart block type II

SMG7 [ENSP00000425133]

SMG7 nonsense mediated mRNA decay factor; Plays a role in nonsense-mediated mRNA decay. Recruits UPF1 to cytoplasmic mRNA decay bodies. Together with SMG5 is thought to provide a link to the mRNA degradation machinery involving exonucleolytic pathways, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation.

Synonyms:  SMG7,  SMG7p,  hSMG7,  B1ALB4,  B4DLY0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM