DISEASES

Disease-gene associations mined from literature

Literature associating KMT2C and Kleefstra syndrome

KMT2C [ENSP00000262189]

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 ...

Linkouts:  STRING  Pharos  UniProt