Description
Product Characteristics:
Aliases: DNA binding protein RFX 5 antibody, DNA binding protein RFX5 antibody, DNA-binding protein RFX5 antibody, Influences HLA class II expression antibody, Regulatory factor X 5 antibody, Regulatory factor X subunit 5 antibody, Regulatory factor X, 5 (influences HLA class II expression) antibody, RFX 5 antibody, RFX5 antibody, Rfx5 protein antibody, RFX5_HUMAN antibody
Target Information: A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS\, MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008]