KMT2E
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Lysine methyltransferase 2E is a protein that in humans is encoded by the KMT2E gene. [1]
Function
[edit | edit source]This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized.
Clinical importance
[edit | edit source]Mutations in this gene have been associated with intellectual disability, autism, macrocephaly, hypotonia, functional gastrointestinal abnormalities and epilepsy.[2]
References
[edit | edit source]Further reading
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.