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mll2

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Official Full Name
myeloid/lymphoid or mixed-lineage leukemia 2
Background
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.
Synonyms
MLL2; myeloid/lymphoid or mixed-lineage leukemia 2; TNRC21, trinucleotide repeat containing 21; histone-lysine N-methyltransferase MLL2; ALR; CAGL114; KMT2D; MLL4; ALL1 related gene; Myeloid/lymphoid or mixed lineage leukemia 2; ALL1-related protein; Kabuki make-up syndrome; lysine N-methyltransferase 2B; lysine N-methyltransferase 2D; Kabuki mental retardation syndrome; trinucleotide repeat containing 21; KMS; AAD10; KMT2B; TNRC21