NSD1
| nuclear receptor binding SET domain protein 1 | |
|---|---|
| Identifiers | |
| Symbol | NSD1 |
| Alt. symbols | STO |
| Entrez | 64324 |
| HUGO | 14234 |
| OMIM | 606681 |
| RefSeq | NM_172349 |
| UniProt | Q96L73 |
| Other data | |
| Locus | Chr. 5 q35 |
NSD1 is a transcription coregulator protein[1] associated with Sotos syndrome[2] and Weaver syndrome.[3]
References
- ↑ Huang N, vom Baur E, Garnier JM, Lerouge T, Vonesch JL, Lutz Y, Chambon P, Losson R (June 1998). "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. doi:10.1093/emboj/17.12.3398. PMC 1170677. PMID 9628876.
- ↑ 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 (April 2002). "Haploinsufficiency of NSD1 causes Sotos syndrome". Nat. Genet. 30 (4): 365–6. doi:10.1038/ng863. PMID 11896389.
- ↑ Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N (January 2003). "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. doi:10.1086/345647. PMC 378618. PMID 12464997.
External links
- GeneReviews/NCBI/NIH/UW entry on Sotos Syndrome
- NSD1 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
- NURSA C103
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