Gene Symbol | KMT2D |
Entrez Gene ID | 8085 |
Full Name | lysine methyltransferase 2D |
Synonyms | AAD10,ALR,CAGL114,KABUK1,KMS,MLL2,MLL4,TNRC21 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Kabuki syndrome 1, 147920 (3) |