KMT2D( Human )

Entrez Gene 8085 Entrez Gene 8085
lysine methyltransferase 2D

Alias

AAD10|ALR|CAGL114|KABUK1|KMS|MLL2|MLL4|TNRC21

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].

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