Primary Identifier | IPR033486 | Type | Family |
Short Name | RFX5 |
description | RFX5 is part of the regulatory factor X (RFX), a heterotrimeric DNA binding complex that binds to the X boxes of all MHC-II promoters. RFX5 is essential for the binding activity and function of the RFX complex []. It contains an N-terminal DNA binding domain (DBD) and a C-terminal domain that mediates cooperative binding between the RFX complex and NF-Y, a transcription factor binding to the Y box sequence of MHC-II promoters [].Mutations in the RFX5 gene cause Bare lymphocyte syndrome 2 (BLS2), a severe combined immunodeficiency disease with early onset []. |