Literature associating PRPF8 and Miller-Dieker lissencephaly syndrome
Pre-mRNA-processing-splicing factor 8; Functions as a scaffold that mediates the ordered assembly of spliceosomal proteins and snRNAs. Required for the assembly of the U4/U6-U5 tri-snRNP complex. Functions as scaffold that positions spliceosomal U2, U5 and U6 snRNAs at splice sites on pre-mRNA substrates, so that splicing can occur. Interacts with both the 5' and the 3' splice site.
Synonyms: PRPF8, PRPF8p, hPRPF8, I3L0J9, Q6P2Q9 ...