Analysis of RFX5 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0598-LGZ)

Introduction

Official Full Name: regulatory factor X5
Lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or bare lymphocyte syndrome (BLS). At least four complementation groups were identified in B-cell lines established from BLS patients. Molecular defects in complementary groups B, C, and D all result in loss of RFX, a nucleoprotein complex that binds the MHC-II promoter X box. The lack of RFX-binding activity of complementation group C is due to mutations in the RFX5 gene encoding the 75-kD subunit of RFX. RFX5 is the fifth member of a growing family of DNA-binding proteins that share a novel and highly characterized DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been identified, but the full-length nature of only two has been determined.