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Gene Review:

KMT2E - lysine (K)-specific methyltransferase 2E

Homo sapiens

Synonyms: HDCMC04P, Histone-lysine N-methyltransferase 2E, Lysine N-methyltransferase 2E, MLL5, Myeloid/lymphoid or mixed-lineage leukemia protein 5, ...

Deng, L.W. et al., Emerling, B.M. et al.

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Disease relevance of MLL5

In a search for candidate myeloid leukemia tumor suppressor genes from a approximately 2.5 Mb commonly-deleted segment within chromosome band 7q22, we identified a novel human Trithorax (Trx) family member named MLL5 [1].
The leukemia cell line RCV-ACV-A carries a heterozygous missense mutation within the PHD domain; however, no mutations within the MLL5 coding region were detected in primary leukemias [1].

High impact information on MLL5

Ectopic overexpression of GFP-MLL5 induced cell cycle arrest in G(1) phase [2].
These findings suggest that MLL5 forms intranuclear protein complexes that may play an important role in chromatin remodeling and cellular growth suppression [2].
MLL5 is a mammalian trithorax group (trx-G) gene identified within chromosome band 7q22, a frequently deleted element found in cytogenetic aberrations of acute myeloid malignancies [2].

References

MLL5, a homolog of Drosophila trithorax located within a segment of chromosome band 7q22 implicated in myeloid leukemia. Emerling, B.M., Bonifas, J., Kratz, C.P., Donovan, S., Taylor, B.R., Green, E.D., Le Beau, M.M., Shannon, K.M. Oncogene (2002) [Pubmed]
MLL 5 protein forms intranuclear foci, and overexpression inhibits cell cycle progression. Deng, L.W., Chiu, I., Strominger, J.L. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]

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