基因产物：包含SET结构域的核受体结合蛋白1。

蛋白功能：可与多种核受体的配体结合域相互作用，对转录可发挥激活或阻止的作用[1]。

相关疾病：Sotos综合征1型（AD）[2-3]； West 综合征 [4]。

相关临床研究：PubMed数据库（PMID:  15942875 (Am J Hum Genet. 2005) ；PMID:  31479583 (Am J Med Genet C Semin Med Genet. 2019) ） 


参考文献

1. Huang, N., et al., Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators. EMBO J, 1998. 17(12): p. 3398-412.
2. Tatton-Brown, K., et al., Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet, 2005. 77(2): p. 193-204.
3. Foster, A., et al., The phenotype of Sotos syndrome in adulthood: A review of 44 individuals. Am J Med Genet C Semin Med Genet, 2019. 181(4): p. 502-508.
4. Pavone, P., et al., West syndrome: a comprehensive review. Neurol Sci, 2020. 41(12): p. 3547-3562.