Disease-gene associations mined from literature

Literature associating PRPF8 and mandibulofacial dysostosis, Guion-Almeida type

PRPF8 [ENSP00000460348]

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 ...

Linkouts:  STRING  Pharos  UniProt