NSD1 explained

NSD1 (Nuclear receptor binding SET Domain Protein 1)^[1] is a transcription coregulator protein^[2] that encodes Histone Methyltransferase and is associated with Sotos syndrome^[3] and Weaver syndrome.^[4]

External links

• GeneReviews/NCBI/NIH/UW entry on Sotos Syndrome

Notes and References

1. Web site: NSD1 Gene. GeneCards human gene database. Weizmann Institute of Science. 31 December 2017.
2. Huang N, vom Baur E, Garnier JM, Lerouge T, Vonesch JL, Lutz Y, Chambon P, Losson R . Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators . EMBO J. . 17 . 12 . 3398–412 . June 1998 . 9628876 . 1170677 . 10.1093/emboj/17.12.3398 .
3. Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita Ha HA, Kinoshita A, Mizuguchi T, Yoshiura Ki K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N . Haploinsufficiency of NSD1 causes Sotos syndrome . Nat. Genet. . 30 . 4 . 365–6 . April 2002 . 11896389 . 10.1038/ng863 . 205357840 .
4. Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N . NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes . Am. J. Hum. Genet. . 72 . 1 . 132–43 . January 2003 . 12464997 . 378618 . 10.1086/345647.