KMT2C

This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT-hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.

MLL3 has been shown to interact with NCOA6{{cite journal | vauthors = Goo YH, Sohn YC, Kim DH, Kim SW, Kang MJ, Jung DJ, Kwak E, Barlev NA, Berger SL, Chow VT, Roeder RG, Azorsa DO, Meltzer PS, Suh PG, Song EJ, Lee KJ, Lee YC, Lee JW | title = Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins | journal = Molecular and Cellular Biology | volume = 23 | issue = 1 | pages = 140–149 | date = January 2003 | pmid = 12482968 | pmc = 140670 | doi = 10.1128/MCB.23.1.140-149.2003 }} and RBBP5.

Mutations of the KMT2C gene cause Kleefstra syndrome-2, a neurodevelopmental disorder first described in 2012.{{cite journal | vauthors = Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, Wissink-Lindhout W, Fenckova M, van den Akker WM, Kasri NN, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J, de Brouwer AP, Gilissen C, Zhou H, Brunner HG, Veltman JA, Schenck A, van Bokhoven H | title = Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability | journal = American Journal of Human Genetics | volume = 91 | issue = 1 | pages = 73–82 | date = July 2012 | pmid = 22726846 | pmc = 3397275 | doi = 10.1016/j.ajhg.2012.05.003 }}

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• {{MeshName|MLL3+protein,+human}}

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{{Transcription factors|g0}}

Category:Transcription factors

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