Citations for
1GPKOW, MCPH26
Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction.
Carroll R, Kumar R, Shaw M, Slee J, Kalscheuer VM, Corbett MA, Gecz J.
Eur J Hum Genet 25(9):1078-1082. doi: 10.1038/ejhg.2017.97. Epub 2017 Jun 14. 2017
2DHX16, GPKOW
GPKOW is essential for pre-mRNA splicing in vitro and suppresses splicing defect caused by dominant-negative DHX16 mutation in vivo.
Zang S, Lin TY, Chen X, Gencheva M, Newo AN, Yang L, Rossi D, Hu J, Lin SB, Huang A, Lin RJ.
Biosci Rep 34(6):e00163. doi: 10.1042/BSR20140142. 2014
3DHX16, DHX38, GPKOW, PRPF8, PRPF8, SLU7
Dynamic protein-protein interaction wiring of the human spliceosome.
Hegele A, Kamburov A, Grossmann A, Sourlis C, Wowro S, Weimann M, Will CL, Pena V, Lührmann R, Stelzl U.
Mol Cell 45(4):567-80. doi: 10.1016/j.molcel.2011.12.034. 2012
4GPKOW
G-patch domain and KOW motifs-containing protein, GPKOW; a nuclear RNA-binding protein regulated by protein kinase A.
Aksaas AK, Larsen AC, Rogne M, Rosendal K, Kvissel AK, Skålhegg BS.
J Mol Signal 6:10. doi: 10.1186/1750-2187-6-10. 2011
5CDPX2A, GPKOW, MRX1, MRX12, MRX26, MRX8
Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval.
Schindelhauer D, Hellebrand H, Grimm L, Bader I, Meitinger T, Wehnert M,Ross M, Meindl A.
Genome Res 6(11):1056-69. 1996