RFX5 Rabbit anti-Human, Polyclonal, Bethyl Laboratories

Description

• The recommended shelf life for this product is 1 year from date of receipt
• 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.