KMT2E explained

Histone-lysine N-methyltransferase 2E, also known as myeloid/lymphoid or mixed-lineage leukemia 5 (MLL5), 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 can cause O'Donnell-Luria–Rodan syndrome, a condition 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 .