Exosome complex component RRP40 (EXOSC3)

Exosome complex component RRP40 (EXOSC3) is a non-catalytic structural subunit of the RNA exosome, a highly conserved multi-protein complex responsible for the processing, maturation, and degradation of many types of cellular RNA, including rRNA, snRNA, snoRNA, mRNA, and non-coding RNAs[2][3][4]. EXOSC3 is essential for normal development, particularly of the brain’s cerebellum and spinal cord motor neurons, and loss-of-function mutations cause rare, severe neurodevelopmental diseases such as pontocerebellar hypoplasia type 1B (PCH1B)[1][2][5]. EXOSC3 lacks catalytic activity itself but is required for the structural stability and correct assembly of the exosome complex, and thus is vital for cellular RNA homeostasis[3][4][5]. There are no known direct therapeutic drugs targeting EXOSC3, nor established companion biomarkers or mechanisms of drug action; rather, its dysfunction is directly associated with monogenic, developmental neurodegeneration.

Other names

Exosome component 3EXOSC3RRP40CGI-102hRrp40pRrp40pp10hRrp-40Ribosomal RNA-processing protein 40exosome component Rrp40exosome complex exonuclease RRP40exosome complex component RRP40exosome component 3CGI-102 proteinPCH1BbA3J10.7