KMT2AD

KMT2AD is not an officially recognized human gene symbol in major genomic reference databases. It may be a typographical variant, an informal shorthand used in a specific publication, or a mislabeling related to members of the KMT2 family. As such, there is no publicly available, citable evidence of a distinct gene or protein described under the name KMT2AD in standard resources.

The KMT2 family, also known as MLL (mixed-lineage leukemia) proteins, comprises histone lysine methyltransferases that catalyze methylation of histone H3 on lysine 4 (H3K4). In humans, the principal members are KMT2A (MLL1), KMT2B (MLL2), KMT2C (MLL3), and KMT2D (MLL4). These enzymes are large nuclear proteins featuring a catalytic SET domain and multiple regulatory domains, such as PHD fingers, which mediate chromatin interactions and recruitment to specific genomic loci. They function within COMPASS-like multisubunit complexes and play critical roles in transcriptional activation, development, and differentiation. Dysregulation of KMT2 family members—through mutations, translocations, or alterations in expression—has been linked to cancers (notably leukemias for some members) and developmental disorders (for example, Kabuki syndrome associated with KMT2D).

For clarification, researchers should consult authoritative databases (NCBI Gene, Ensembl, HGNC) to confirm gene nomenclature. If you encountered KMT2AD in a paper or dataset, verify the exact gene or transcript identifiers used there, or determine whether the intended reference is one of the established KMT2 family genes. See also KMT2A, KMT2B, KMT2C, KMT2D, histone methyltransferases, and the MLL family.