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KMT2D gene

lysine methyltransferase 2D

Key facts

Official symbol
KMT2D
Full name
KMT2D
Chromosome
12
Map location
12q13.12
Organism
Homo sapiens
NCBI Gene ID
8085
Also known as
AAD10, ALR, BCAHH, CAGL114, KABUK1, KMS

Function 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].

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Data source: NCBI Gene · alsesAI Gene Library