eftud2

Summary

Gene Symbol: eftud2
Description: elongation factor Tu GTP binding domain containing 2
Alias: wu:fi20f05, zgc:66214, 116 kDa U5 small nuclear ribonucleoprotein component
Species: zebrafish

Top Publications

  1. Liu Y, Chen X, Qin B, Zhao K, Zhao Q, Staley J, et al. Knocking Down Snrnp200 Initiates Demorphogenesis of Rod Photoreceptors in Zebrafish. J Ophthalmol. 2015;2015:816329 pubmed publisher
    ..Conclusions. We conclude that knocking down Snrnp200 in zebrafish could alter regular splicing and expression of a panel of genes, which may eventually trigger rod defects. ..
  2. Chen X, Liu Y, Sheng X, Tam P, Zhao K, Chen X, et al. PRPF4 mutations cause autosomal dominant retinitis pigmentosa. Hum Mol Genet. 2014;23:2926-39 pubmed publisher
    ..We conclude that mutations of PRPF4 cause RP via haploinsufficiency and dominant-negative effects, and establish PRPF4 as a new U4/U6-U5 snRNP component associated with adRP. ..
  3. Deml B, Reis L, Muheisen S, Bick D, Semina E. EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model. Birth Defects Res A Clin Mol Teratol. 2015;103:630-40 pubmed publisher
    ..Whole exome sequencing revealed a de novo variant, c.473_474delGA, p.(Arg158Lysfs*4), in EFTUD2 which encodes a component of the spliceosome complex...