SETD2 Recombinant Rabbit mAb (S-3469-102)

SETD2 (SET Domain Containing 2) is a crucial histone methyltransferase that specifically catalyzes the trimethylation of lysine 36 on histone H3 (H3K36me3), an epigenetic mark essential for maintaining genomic integrity and regulating transcriptional elongation. As the sole enzyme responsible for this modification in humans, SETD2 plays a pivotal role in coordinating DNA repair mechanisms, particularly homologous recombination, by recruiting mismatch repair proteins and preventing erroneous nucleosome assembly during replication. Functioning as a bona fide tumor suppressor, loss-of-function mutations or deletions in the SETD2 gene are frequently observed in various malignancies, including clear cell renal cell carcinoma, acute leukemias, and glioblastomas, where its absence leads to widespread genomic instability, increased mutation rates, and aberrant splicing patterns due to the disruption of the coupling between transcription and RNA processing.