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 KMT2E gene. [5]
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.[6]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000005483 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029004 – Ensembl, May 2017
- ^ “Human PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ “Mouse PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ “Entrez Gene: Lysine methyltransferase 2E”. Retrieved 2016-06-02.
- ^ O’Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, et al. (May 2019). “Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy”. American Journal of Human Genetics. 104 (6): 1210–1222. doi:10.1016/j.ajhg.2019.03.021. PMC 6556837. PMID 31079897.
Further reading
- Emerling BM, Bonifas J, Kratz CP, Donovan S, Taylor BR, Green ED, Le Beau MM, Shannon KM (2002). “MLL5, a homolog of Drosophila trithorax located within a segment of chromosome band 7q22 implicated in myeloid leukemia”. Oncogene. 21 (31): 4849–54. doi:10.1038/sj.onc.1205615. PMID 12101424.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.