Aliases for SMG9 Gene
External Ids for SMG9 Gene
Previous HGNC Symbols for SMG9 Gene
Previous GeneCards Identifiers for SMG9 Gene
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]
GeneCards Summary for SMG9 Gene
SMG9 (SMG9 Nonsense Mediated MRNA Decay Factor) is a Protein Coding gene. Diseases associated with SMG9 include Heart And Brain Malformation Syndrome and Arteriovenous Malformations Of The Brain. Among its related pathways are Viral mRNA Translation and Gene Expression. Gene Ontology (GO) annotations related to this gene include identical protein binding.
UniProtKB/Swiss-Prot Summary for SMG9 Gene
Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons (PubMed:19417104). 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 (PubMed:19417104). Plays a role in brain, heart, and eye development (By similarity).