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SMG9


Official Full Name
SMG9 nonsense mediated mRNA decay factor
Organism
Homo sapiens
Gene ID
56006
Background
This gene encodes a regulatory subunit of the SMG1 complex, which plays a critical role in nonsense-mediated mRNA decay (NMD). Binding of the encoded protein to the SMG1 complex kinase scaffold protein results in the inhibition of its kinase activity. Mutations in this gene cause a multiple congenital anomaly syndrome in human patients, characterized by brain malformation, congenital heart disease and other features. [provided by RefSeq, Jul 2016]
Synonyms
HBMS; NEDITPO; C19orf61; F17127_1

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