{"symbol":"SMG9","synonyms":["HBMS","C19ORF61","F17127_1"],"name":"SMG9 nonsense mediated mRNA decay factor","description":"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]","ncbiEntrezGeneId":56006,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/56006","proteins":[{"symbol":"SMG9_HUMAN","href":"/api/1.0/protein/SMG9_HUMAN"}],"hgncRootFamilies":[]}