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.
Immunogen Information
Immunogen
Synthetic peptide of human KMT2D
Swissprot
O14686
Synonyms
AAD10ALL1 related geneALL1-related proteinALRCAGL114Histone-lysine N-methyltransferase MLL2KABUK1Kabuki make up syndromeKabuki mental retardation syndromeKMSKMT2BKMT2DLysine N methyltransferase 2DLysine N-methyltransferase 2BMLL2MLL2MLL4M
Gene Accession
NP_003473
Applications
Reactivity
Human
Tested Applications
IHC,ELISA
Conjugation
Unconjugated
Dilution
IHC 1:50-1:200
Concentration
0.4 mg/mL
Storage Buffer
PBS with 0.05% sodium azide and 50% glycerol, PH7.4