MED12

MED12（Mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)）是在X染色體發現的人類基因。 已隱藏部分未翻譯内容，歡迎參與翻譯。 MED12基因上的突变与Lujan-Fryns綜合症、FG综合征等X連鎖顯性遺傳智能障礙，以及前列腺癌有关。 Mutations in MED12 are associated with uterine leiomyomas and breast fibroepithelial tumors (e.g. fibroadenoma and phyllodes tumors). MED12可與下列蛋白發生相互作用： 维生素D受体 周期蛋白依赖性激酶8 雌激素受体α Gli3、G9a、PPARGC1A MED26 SOX9 甲状腺激素受体α 與MED12相關的疾病；在維基數據上查看/編輯參考.  GRCh38: Ensembl release 89: ENSG00000184634 - Ensembl, May 2017 GRCm38: Ensembl release 89: ENSMUSG00000079487 - Ensembl, May 2017 Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.  Mouse PubMed Reference:. 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Mediator modulates Gli3-dependent Sonic hedgehog signaling. Molecular and Cellular Biology. Dec 2006, 26 (23): 8667–82. PMC 1636813 . PMID 17000779. doi:10.1128/MCB.00443-06.  Zhou H, Spaeth JM, Kim NH, Xu X, Friez MJ, Schwartz CE, Boyer TG. MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling. Proceedings of the National Academy of Sciences of the United States of America. Nov 2012, 109 (48): 19763–8. PMC 3511715 . PMID 23091001. doi:10.1073/pnas.1121120109 .  GeneReviews/NCBI/NIH/UW entry on MED12-Related Disorders （页面存档备份，存于互联网档案馆）