Disease-gene associations mined from literature

Literature associating PRPF6 and mandibulofacial dysostosis, Guion-Almeida type

PRPF6 [ENSP00000266079]

Androgen receptor N-terminal domain-transactivating protein 1; 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; U5 small nucleolar ribonucleoprotein

Synonyms:  PRPF6,  PRPF6p,  hPRPF6,  O94906,  PRPF6-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM