Synonyms:AAD10, ALR, CAGL114, ENTREZ:8085, HGNC:7133, KABUK1, KMS, KMT2D, MIM:602113, MLL2, MLL4, NM_003482, NP_003473, TNRC21, XM_006719614, XM_006719616, XM_011538770, XM_011538771, XM_011538772, XM_011538773, XM_011538774, XM_011538776, XP_006719677, XP_006719679, XP_011537072, XP_011537073, XP_011537074, XP_011537075, XP_011537076, XP_011537078, XR_001748874, lysine methyltransferase 2D
Omim:OMIM:602113
Id:ENSG00000167548
Hgnc:HGNC:7133
Description:lysine methyltransferase 2D
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. [provided by RefSeq, Oct 2010]