DISEASES

Disease-gene associations mined from literature

Literature associating PRPF31 and retinitis pigmentosa

PRPF31 [ENSP00000324122]

Serologically defined breast cancer antigen NY-BR-99; Involved in pre-mRNA splicing. Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome; U4/U6 small nucleolar ribonucleoprotein

Synonyms:  PRPF31,  PRPF31p,  hPRPF31,  PRPF31-001,  PRPF31-003 ...

Linkouts:  STRING  Pharos  UniProt  OMIM