RecName: Full=Histone-lysine N-methyltransferase 2C; Short=Lysine N-me - Protein

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A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2. [Mol Genet Genomic Med. 2024]
A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2.
Whitford W, Taylor J, Hayes I, Smith W, Snell RG, Lehnert K, Jacobsen JC. Mol Genet Genomic Med. 2024 Jan; 12(1):e2350. Epub 2023 Dec 26.
Mutations in epigenetic regulator KMT2C detected by liquid biopsy are associated with worse survival in prostate cancer patients. [Oncol Res. 2023]
Mutations in epigenetic regulator KMT2C detected by liquid biopsy are associated with worse survival in prostate cancer patients.
Zhu S, Xu N, Liang J, Zhao F, Wang Z, Ni Y, Dai J, Zhao J, Zhang X, Chen J, et al. Oncol Res. 2023; 31(4):605-614. Epub 2023 Jun 27.
MLL3 loss drives metastasis by promoting a hybrid epithelial-mesenchymal transition state. [Nat Cell Biol. 2023]
MLL3 loss drives metastasis by promoting a hybrid epithelial-mesenchymal transition state.
Cui J, Zhang C, Lee JE, Bartholdy BA, Yang D, Liu Y, Erler P, Galbo PM Jr, Hodge DQ, Huangfu D, et al. Nat Cell Biol. 2023 Jan; 25(1):145-158. Epub 2023 Jan 5.

RefSeq genomic sequence
See the genomic reference sequence for the KMT2C gene (NG_033948.1).

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Q8NEZ4 [Domain Mapping of Disease Mut...]
Q8NEZ4
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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RecName: Full=Histone-lysine N-methyltransferase 2C; Short=Lysine N-methyltransf...
RecName: Full=Histone-lysine N-methyltransferase 2C; Short=Lysine N-methyltransferase 2C; AltName: Full=Homologous to ALR protein; AltName: Full=Myeloid/lymphoid or mixed-lineage leukemia protein 3
gi|221222521|sp|Q8NEZ4.3|KMT2C_HUMA

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