基因名：
GEMIN8
产品别名：
FAM51A1； GEMIN8； gem nuclear organelle associated protein 8； gem nuclear organelle associated protein 8； gem-associated protein 8； family with sequence similarity 51, member A1； gemin-8； Gemin8蛋白；
背景信息：
Gemin8 is a 242 amino acid protein encoded by the mouse gene Gemin8. Gemin8, along with Gemins 2-7 and unrip, is a major component of the large multiprotein survival of motor neurons (SMN) complex. The survival of motor neurons (SMN) protein, a product of the disease gene of the common neurodegenerative disease spinal muscular atrophy, is also part of the SMN complex. The SMN complex is a modular composition of proteins with SMN, Gemin8, and Gemin7 in its center. The SMN complex functions as an assembly machine for small nuclear ribonucleoproteins (snRNPs)-the major components of the spliceosome. Gemin8 binds directly to SMN and mediates its interaction with the Gemin6/Gemin7 heterodimer. Importantly, the loss of Gemin6, Gemin7, and Unrip interaction with SMN as a result of Gemin8 knockdown affects snRNP assembly by impairing the SMN complex association with Sm proteins but not with snRNAs. The Gemin6/Gemin7 complex binds to Sm proteins and might help organize Sm proteins for formation of Sm rings on snRNA targets.
