SMG9

Description

The SMG9 (SMG9 nonsense mediated mRNA decay factor) is a protein-coding gene located on chromosome 19.

SMG9 is crucial for nonsense-mediated decay (NMD), a process that eliminates mRNAs with premature stop codons, preventing the production of truncated proteins. SMG9, along with SMG1 and SMG8, forms the SMG1C protein kinase complex. This complex is recruited to ribosomes stalled at premature stop codons by release factors. Within this complex, SMG9 facilitates the interaction between SMG1 and SMG8, contributing to the efficient degradation of the faulty mRNA. Furthermore, SMG9 plays a role in the development of critical organs like the brain, heart, and eyes.

SMG9 is also known as C19orf61, F17127_1, HBMS, NEDITPO.

Associated Diseases

• Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
• Heart and brain malformation syndrome