The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome.
Aliases： ALR; KMS; MLL2; MLL4; AAD10; KABUK1; TNRC21; CAGL114
Entrez GeneID： 8085
Swissprot ： O14686
WB Predicted band size： 593kDa
Host/Isotype： Mouse IgG2b
Species Reactivity： Human
Immunogen ： Purified recombinant fragment of human KMT2D (AA: 445-599) expressed in E. Coli.
