RecName: Full=Inactive histone-lysine N-methyltransferase 2E; Short=In - Protein

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KMT2E-Related Neurodevelopmental Disorder. [GeneReviews(®). 1993]
KMT2E-Related Neurodevelopmental Disorder.
Pais L, Rodan L, O'Donnell-Luria A. GeneReviews(®). 1993-2024. 2024 Apr 18
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. [J Med Genet. 2022]
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, et al. J Med Genet. 2022 Jul; 59(7):697-705. Epub 2021 Jul 28.
MLL5 improves ATRA driven differentiation and promotes xenotransplant engraftment in acute promyelocytic leukemia model. [Cell Death Dis. 2021]
MLL5 improves ATRA driven differentiation and promotes xenotransplant engraftment in acute promyelocytic leukemia model.
Pereira-Martins DA, Weinhäuser I, Coelho-Silva JL, França-Neto PL, Almeida LY, Bianco TM, Silva CL, França RF, Traina F, Rego EM, et al. Cell Death Dis. 2021 Apr 6; 12(4):371. Epub 2021 Apr 6.

RefSeq genomic sequence
See the genomic reference sequence for the KMT2E gene (NG_033949.1).
RefSeq protein isoforms
See 11 reference sequence protein isoforms for the KMT2E gene.

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Q8IZD2 [Domain Mapping of Disease Mut...]
Q8IZD2
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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RecName: Full=Inactive histone-lysine N-methyltransferase 2E; Short=Inactive lys...
RecName: Full=Inactive histone-lysine N-methyltransferase 2E; Short=Inactive lysine N-methyltransferase 2E; AltName: Full=Myeloid/lymphoid or mixed-lineage leukemia protein 5
gi|74723669|sp|Q8IZD2.1|KMT2E_HUMAN

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