Gene Symbol | SMG9 |
Entrez Gene ID | 56006 |
Full Name | SMG9, nonsense mediated mRNA decay factor |
Synonyms | C19orf61,F17127_1,HBMS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Heart and brain malformation syndrome, 616920 (3) |