Entrez gene ID | | 8085 |
Official gene symbol | | KMT2D |
Full name | | myeloid/lymphoid or mixed-lineage leukemia 2 |
Aliases | | ,AAD10,ALR,CAGL114,KABUK1,KMS,MLL2,MLL4,TNRC21, |
Gene 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] |
Location | | Chromosome: 12 Locus: 12q12-q14 |
Gene position | | 49449107 - 49412758 Map Viewer |
Gene orientation | | minus |
Gene size | | 36350 bp |
Gene sequence |
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OMIM ID | | 602113 |
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