Literature associating KMT2C and Kabuki syndrome
Myeloid/lymphoid or mixed-lineage leukemia protein 3; Histone methyltransferase. Methylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Central component of the MLL2/3 complex, a coactivator complex of nuclear receptors, involved in transcriptional coactivation. KMT2C/MLL3 may be a catalytic subunit of this complex. May be involved in leukemogenesis and developmental disorder; Lysine methyltransferases
Synonyms: KMT2C, KMT2Cp, hKMT2C, C9J4Z5, DKFZP686C08112 ...