SON DNA- and RNA-binding protein (SON)

SON is a large nuclear speckle-associated protein encoded by the SON gene, characterized by both DNA- and RNA-binding domains and multiple splicing-related motifs[1][2][3][4]. Functionally, it is an essential splicing co-factor that facilitates the efficient splicing and correct processing of weak splice sites, particularly in genes involved in the cell cycle, DNA repair, and genome maintenance[2][3][4]. SON is required for proper mitosis, chromosome alignment, genome stability, and centriole assembly, and its deficiency can cause severe developmental and cellular defects[1][2][3]. Mutations or aberrant isoform expression of SON are implicated in neurodevelopmental syndromes (such as ZTTK syndrome), glioblastoma, hematologic malignancies (like myelodysplastic syndromes and acute myeloid leukemia), and possibly other cancers, in part due to its role in regulating the splicing and expression of oncogenes and tumor suppressors[1][3][4][6]. SON is not classified as a classic therapeutic target (e.g., receptor, enzyme, transporter) but is a critical nuclear factor influencing RNA metabolism and genome stability.

Other names

BASS1Bax antagonist selected in saccharomyces 1NRE-binding proteinNegative regulatory element-binding proteinC21orf50DBP5KIAA1019NREBP