DISEASES

Disease-gene associations mined from literature

Literature associating PRPF6 and retinitis pigmentosa 11

PRPF6 [ENSP00000266079]

Pre-mRNA-processing factor 6; Involved in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex, one of the building blocks of the spliceosome . Enhances dihydrotestosterone- induced transactivation activity of AR, as well as dexamethasone- induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation.

Synonyms:  PRPF6,  PRPF6p,  hPRPF6,  O94906,  O94906p ...

Linkouts:  STRING  Pharos  UniProt  OMIM