Gene Symbol: prpf4
Description: PRP4 pre-mRNA processing factor 4 homolog (yeast)
Alias: mg:ab03a02, zgc:65943, U4/U6 small nuclear ribonucleoprotein Prp4
Linder B, Dill H, Hirmer A, Brocher J, Lee G, Mathavan S, et al
. Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa. Hum Mol Genet. 2011;20:368-77 pubmed publisher
..Silencing of Prpf4, a splicing factor hitherto unrelated to RP, evoked the same defects in vision, photoreceptor morphology and ..
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
..HPrp4, encoded by PRPF4, regulates the stability of U4/U6 di-snRNP, which is essential for continuous splicing...
Linder B, Hirmer A, Gal A, RÃ¼ther K, Bolz H, Winkler C, et al
. Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa. PLoS ONE. 2014;9:e111754 pubmed publisher
..Mutations in six spliceosomal proteins, PRPF3, PRPF4, PRPF6, PRPF8, PRPF31 and SNRNP200, cause retinitis pigmentosa (RP), a disease characterized by progressive ..