Structural highlights
Disease
MAN1_HUMAN Isolated osteopoikilosis;Buschke-Ollendorff syndrome;12q14 microdeletion syndrome;Melorheostosis with osteopoikilosis. The disease is caused by mutations affecting the gene represented in this entry.
Function
MAN1_HUMAN Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest.[1] [2]
References
- ↑ Lin F, Morrison JM, Wu W, Worman HJ. MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-beta signaling. Hum Mol Genet. 2005 Feb 1;14(3):437-45. doi: 10.1093/hmg/ddi040. Epub 2004 Dec, 15. PMID:15601644 doi:http://dx.doi.org/10.1093/hmg/ddi040
- ↑ Pan D, Estevez-Salmeron LD, Stroschein SL, Zhu X, He J, Zhou S, Luo K. The integral inner nuclear membrane protein MAN1 physically interacts with the R-Smad proteins to repress signaling by the transforming growth factor-{beta} superfamily of cytokines. J Biol Chem. 2005 Apr 22;280(16):15992-6001. doi: 10.1074/jbc.M411234200. Epub, 2005 Jan 12. PMID:15647271 doi:http://dx.doi.org/10.1074/jbc.M411234200
