The RFX family is a family of winged-helix DNA-binding proteins. RFX1 is a regulatory factor essential for expression of MHC class II genes. This region is found N-terminal to the RFX DNA-binding region () in some mammalian RFX proteins, and is thought to activate transcription when associated with DNA. Deletion analysis has identified the region 233-351 in human RFX1 () as being required for maximal activation [].
This entry includes Rfx1 from budding yeasts, Sak1 from fission yeasts and RFX1-8 from humans []. They are transcription factors that contain a RFX DNA binding domain and a conserved C-terminal region [].Mutations in the RFX5 gene cause Bare lymphocyte syndrome 2 (BLS2), a severe combined immunodeficiency disease with early onset []. Mutations in the RFX6 gene cause Mitchell-Riley syndrome (MTCHRS), a disorder characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, and absent gallbladder [, ].
