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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| KMT2D-20-RE | 20 (40 μL) | 200 μL |  |
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| KMT2D-20-OR | 20 (40 μL) | 200 μL |  |
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| KMT2D-20-GO | 20 (40 μL) | 200 μL |  |
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| KMT2D-20-GR | 20 (40 μL) | 200 μL |  |
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| KMT2D-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : KMT2D
Gene Name : Lysine methyltransferase 2D
Chromosome : CHR 12: 490,608,83-490,189,74
Locus : 12q13.12
Alt. Genes : ENAM
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