SMG9
Function
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).
Involvement in disease
Heart and brain malformation syndrome
HBMS
An autosomal recessive syndrome characterized by multiple congenital anomalies such as cardiac defects, brain malformations, including cerebellar vermis hypoplasia, hypoplastic corpus callosum and Dandy-Walker malformation, profoundly delayed psychomotor development, microphthalmia, and facial dysmorphism.
None
The disease is caused by variants affecting the gene represented in this entry.
Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
NEDITPO
An autosomal recessive disorder characterized by characterized by mild to moderate intellectual disability, dysmorphic facial features, intention tremor, dyspraxia, and vertical strabismus.
None
The disease may be caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated by SMG1.
Sequence Similarities
Belongs to the SMG9 family.
Alternative names
C19orf61, SMG9, Nonsense-mediated mRNA decay factor SMG9