RFX5 Antibody

Background:

A lack of MHC-II expression results in a severeimmunodeficiency syndrome called MHC-II deficiency, or the barelymphocyte syndrome (BLS; MIM 209920). At least 4 complementationgroups have been identified in B-cell lines established frompatients with BLS. The molecular defects in complementation groupsB, C, and D all lead to a deficiency in RFX, a nuclear proteincomplex that binds to the X box of MHC-II promoters. The lack ofRFX binding activity in complementation group C results frommutations in the RFX5 gene encoding the 75-kD subunit of RFX(Steimle et al., 1995). RFX5 is the fifth member of the growingfamily of DNA-binding proteins sharing a novel and highlycharacteristic DNA-binding domain called the RFX motif. Multiplealternatively spliced transcript variants have been found but thefull-length natures of only two have been determined. [provided byRefSeq].