2m2b

Structural highlights

Disease

[RBM10_HUMAN] TARP syndrome. TARP syndrome (TARPS) [MIM:311900]: A disorder characterized by the Robin sequence (micrognathia, glossoptosis and cleft palate), talipes equinovarus and cardiac defects. Note=The disease is caused by mutations affecting the gene represented in this entry.^[1]

Function

[RBM10_HUMAN] May be involved in post-transcriptional processing, most probably in mRNA splicing. Binds to RNA homopolymers, with a preference for poly(G) and poly(U) and little for poly(A) (By similarity).^[2]

References

1. ↑ Johnston JJ, Teer JK, Cherukuri PF, Hansen NF, Loftus SK, Chong K, Mullikin JC, Biesecker LG. Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. Am J Hum Genet. 2010 May 14;86(5):743-8. doi: 10.1016/j.ajhg.2010.04.007. Epub, 2010 May 6. PMID:20451169 doi:10.1016/j.ajhg.2010.04.007
2. ↑ Inoue A, Tsugawa K, Tokunaga K, Takahashi KP, Uni S, Kimura M, Nishio K, Yamamoto N, Honda K, Watanabe T, Yamane H, Tani T. S1-1 nuclear domains: characterization and dynamics as a function of transcriptional activity. Biol Cell. 2008 Sep;100(9):523-35. PMID:18315527 doi:BC20070142