KMT2E explained

Lysine methyltransferase 2E is a protein that in humans is encoded by the gene.^[1]

Function

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

Mutations in this gene have been associated with intellectual disability, autism, macrocephaly, hypotonia, functional gastrointestinal abnormalities and epilepsy.^[2]

Further reading

• Emerling BM, Bonifas J, Kratz CP, Donovan S, Taylor BR, Green ED, Le Beau MM, Shannon KM . MLL5, a homolog of Drosophila trithorax located within a segment of chromosome band 7q22 implicated in myeloid leukemia . Oncogene . 21 . 31 . 4849–54 . 2002 . 12101424 . 10.1038/sj.onc.1205615 . free .

Notes and References

1. Web site: Entrez Gene: Lysine methyltransferase 2E. 2016-06-02.
2. O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, etal . Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy . American Journal of Human Genetics . 104. 6. 1210–1222. May 2019 . 31079897 . 10.1016/j.ajhg.2019.03.021 . 6556837 . free .