Lysine methyltransferase 2C (KMT2C) (KMT2C)

Lysine methyltransferase 2C (KMT2C), also known as MLL3, is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family of histone methyltransferases. It functions as a catalytic component of the ASCOM complex, which is primarily responsible for the mono-methylation of histone H3 at lysine 4 (H3K4me1), a key epigenetic mark associated with active enhancers (UniProt Q8NEZ4). KMT2C plays a critical role in regulating gene expression programs and maintaining genomic stability through its involvement in DNA repair pathways (PubMed: 31434690). In human disease, KMT2C is one of the most frequently mutated genes in various cancers, including breast, bladder, and lung cancers, where it often acts as a tumor suppressor (PubMed: 28234358). While direct pharmacological inhibitors of KMT2C are primarily in the research phase, its loss of function has been identified as a significant biomarker for sensitivity to certain therapies, such as PARP inhibitors, through synthetic lethal interactions (PubMed: 30104371). Targeting KMT2C mRNA or its protein product represents a significant area of interest in precision oncology and epigenetic therapy.

Other names

MLL3Myeloid/lymphoid or mixed-lineage leukemia protein 3HALPKLEFS2

Synthetic lethality in KMT2C-deficient cells via PARP inhibition; potential direct inhibition of methyltransferase activity (research stage).